Variant report

Variant	nsv538000
Chromosome Location	chr5:180234136-180447744
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2727)
CpG islands
(count:4890)
Chromatin interactive
region (count:220)
LncRNA
region (count:100)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2727 , 50 per page) page: 1 2 3 4 5 6 7 ... 55

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr5:180237110-180237633	GM12878	blood:	n/a	n/a
2	ATF2	chr5:180247668-180248301	GM12878	blood:	n/a	chr5:180248216-180248227
3	ATF2	chr5:180259450-180260089	GM12878	blood:	n/a	n/a
4	ATF2	chr5:180287523-180287977	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr5:180295130-180295721	GM12878	blood:	n/a	n/a
6	ATF2	chr5:180288318-180288726	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr5:180236745-180237952	GM12878	blood:	n/a	n/a
8	ATF2	chr5:180257642-180258201	GM12878	blood:	n/a	n/a
9	ATF2	chr5:180287641-180288731	GM12878	blood:	n/a	n/a
10	ATF2	chr5:180237161-180237598	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF2	chr5:180258377-180258920	GM12878	blood:	n/a	n/a
12	ATF2	chr5:180241124-180241744	GM12878	blood:	n/a	n/a
13	ATF2	chr5:180257705-180258044	GM12878	blood:	n/a	n/a
14	ATF3	chr5:180300916-180301148	K562	blood:	n/a	n/a
15	ATF3	chr5:180258535-180258898	A549	lung:	n/a	n/a
16	ATF3	chr5:180266949-180267264	K562	blood:	n/a	n/a
17	ATF3	chr5:180237170-180237691	A549	lung:	n/a	n/a
18	ATF3	chr5:180300831-180301293	K562	blood:	n/a	n/a
19	BATF	chr5:180295385-180295684	GM12878	blood:	n/a	n/a
20	BATF	chr5:180300882-180301218	GM12878	blood:	n/a	n/a
21	BATF	chr5:180300881-180301195	GM12878	blood:	n/a	n/a
22	BATF	chr5:180336078-180336346	GM12878	blood:	n/a	n/a
23	BATF	chr5:180295359-180295616	GM12878	blood:	n/a	n/a
24	BCL11A	chr5:180402385-180402643	GM12878	blood:	n/a	chr5:180402541-180402550
25	BCL3	chr5:180258428-180259048	A549	lung:	n/a	n/a
26	BCL3	chr5:180287597-180288561	A549	lung:	n/a	chr5:180288052-180288061 chr5:180287721-180287730
27	BCL3	chr5:180257765-180258237	A549	lung:	n/a	n/a
28	BCL3	chr5:180258428-180258981	A549	lung:	n/a	n/a
29	BCL3	chr5:180237078-180237785	A549	lung:	n/a	n/a
30	BCL3	chr5:180236674-180237936	A549	lung:	n/a	n/a
31	BCLAF1	chr5:180237131-180238121	GM12878	blood:	n/a	n/a
32	BCLAF1	chr5:180287607-180288667	GM12878	blood:	n/a	chr5:180288589-180288598 chr5:180288052-180288061 chr5:180287721-180287730
33	BCLAF1	chr5:180288001-180288500	K562	blood:	n/a	chr5:180288052-180288061
34	BCLAF1	chr5:180287393-180288777	GM12878	blood:	n/a	chr5:180288589-180288598 chr5:180288052-180288061 chr5:180287721-180287730
35	BCLAF1	chr5:180241139-180241759	GM12878	blood:	n/a	n/a
36	BCLAF1	chr5:180236822-180237095	GM12878	blood:	n/a	n/a
37	BCLAF1	chr5:180257793-180258873	GM12878	blood:	n/a	n/a
38	BCLAF1	chr5:180287997-180288590	K562	blood:	n/a	chr5:180288052-180288061
39	BCLAF1	chr5:180259390-180260221	GM12878	blood:	n/a	chr5:180259952-180259965 chr5:180259629-180259638
40	BCLAF1	chr5:180257580-180258891	GM12878	blood:	n/a	n/a
41	BCLAF1	chr5:180237147-180238092	GM12878	blood:	n/a	n/a
42	CBX3	chr5:180275961-180276367	K562	blood:	n/a	n/a
43	CBX3	chr5:180295820-180296390	K562	blood:	n/a	n/a
44	CBX3	chr5:180237201-180237752	K562	blood:	n/a	n/a
45	CBX3	chr5:180245996-180246265	K562	blood:	n/a	n/a
46	CBX3	chr5:180253096-180253684	HCT-116	colon:	n/a	n/a
47	CBX3	chr5:180277408-180278141	HCT-116	colon:	n/a	n/a
48	CBX3	chr5:180312826-180313332	K562	blood:	n/a	n/a
49	CBX3	chr5:180300400-180301493	K562	blood:	n/a	n/a
50	CBX3	chr5:180277464-180277788	K562	blood:	n/a	n/a

(count:4890 , 50 per page) page: 1 2 3 4 5 6 7 ... 98

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:180244832-180244882	HEEpiC	esophagus:	n/a
2	chr5:180433174-180433224	HRPEpiC	eye:	n/a
3	chr5:180415938-180415988	HCF	heart:	n/a
4	chr5:180336487-180336537	GM12891	blood:	n/a
5	chr5:180397910-180397960	HIPEpiC	eye:	n/a
6	chr5:180287904-180287954	A549	lung:	n/a
7	chr5:180258265-180258315	T-47D	breast:	n/a
8	chr5:180396076-180396126	NH-A	brain:	n/a
9	chr5:180238010-180238060	AoSMC	blood vessel:	n/a
10	chr5:180325579-180325629	AG09319	gingival:	n/a
11	chr5:180244832-180244882	HEEpiC	esophagus:	n/a
12	chr5:180433174-180433224	HRPEpiC	eye:	n/a
13	chr5:180415938-180415988	HCF	heart:	n/a
14	chr5:180336487-180336537	GM12891	blood:	n/a
15	chr5:180397910-180397960	HIPEpiC	eye:	n/a
16	chr5:180287904-180287954	A549	lung:	n/a
17	chr5:180258265-180258315	T-47D	breast:	n/a
18	chr5:180396076-180396126	NH-A	brain:	n/a
19	chr5:180238010-180238060	AoSMC	blood vessel:	n/a
20	chr5:180325579-180325629	AG09319	gingival:	n/a
21	chr5:180238010-180238060	PFSK-1	brain:	n/a
22	chr5:180377617-180377667	HAEpiC	amniotic membrane:	n/a
23	chr5:180235800-180235850	K562	blood:	n/a
24	chr5:180288729-180288779	HPAEpiC	pulmonary alveolar:	n/a
25	chr5:180295053-180295103	NHDF-neo	bronchial:	n/a
26	chr5:180258852-180258902	GM12891	blood:	n/a
27	chr5:180236251-180236301	GM12878	blood:	n/a
28	chr5:180335722-180335772	GM12891	blood:	n/a
29	chr5:180237215-180237265	AoSMC	blood vessel:	n/a
30	chr5:180338435-180338485	AG04449	skin:	fetal
31	chr5:180235800-180235850	RPTEC	kidney:	n/a
32	chr5:180408809-180408859	HCF	heart:	n/a
33	chr5:180258768-180258818	RPTEC	kidney:	n/a
34	chr5:180240653-180240703	GM19239	blood:	n/a
35	chr5:180237008-180237058	MCF-7	breast:	n/a
36	chr5:180414906-180414956	Hela-S3	cervix:	n/a
37	chr5:180335743-180335793	BE2_C	brain:	n/a
38	chr5:180325254-180325304	LNCaP	prostate:	n/a
39	chr5:180288429-180288479	HUVEC	blood vessel:	n/a
40	chr5:180325954-180326004	AG09309	skin:	n/a
41	chr5:180286037-180286087	BE2_C	brain:	n/a
42	chr5:180258762-180258812	NHDF-neo	bronchial:	n/a
43	chr5:180244832-180244882	AG09309	skin:	n/a
44	chr5:180397910-180397960	BJ	skin:	n/a
45	chr5:180238010-180238060	AG09309	skin:	n/a
46	chr5:180408785-180408835	LNCaP	prostate:	n/a
47	chr5:180397910-180397960	Caco-2	colon:	n/a
48	chr5:180244832-180244882	Hepatocyte	liver:	n/a
49	chr5:180396076-180396126	Hela-S3	cervix:	n/a
50	chr5:180429512-180429562	SKMC	muscle:	n/a

(count:220 , 50 per page) page: 1 2 3 4 5

No.	Distal block	Cell Line	Cell type
1	chr5:180234891..180237258-chr5:180687300..180689661,2	MCF-7	breast:
2	chr5:180235508..180238459-chr5:180267237..180269270,2	K562	blood:
3	chr5:180250096..180252900-chr5:180253508..180255247,2	K562	blood:
4	chr5:180235539..180242527-chr5:180285126..180289932,26	MCF-7	breast:
5	chr5:180217067..180219759-chr5:180269419..180271439,2	K562	blood:
6	chr5:180299298..180302725-chr5:180469235..180473886,4	K562	blood:
7	chr5:180301189..180302712-chr5:180475521..180478007,2	K562	blood:
8	chr5:180235829..180239179-chr5:180240712..180247762,18	K562	blood:
9	chr5:180290898..180293889-chr5:180598131..180599944,2	MCF-7	breast:
10	chr5:180240270..180241199-chr5:180250010..180250973,3	MCF-7	breast:
11	chr5:180282542..180284209-chr5:180286607..180288204,2	K562	blood:
12	chr5:180243951..180250734-chr5:180251337..180254880,9	K562	blood:
13	chr5:180326248..180328763-chr5:180336023..180337765,2	MCF-7	breast:
14	chr20:47893639..47896346-chr5:180271161..180272916,2	MCF-7	breast:
15	chr5:180260907..180268562-chr5:180284401..180289844,9	K562	blood:
16	chr5:180248851..180251777-chr5:180263688..180265832,2	K562	blood:
17	chr5:180235042..180237389-chr5:180478228..180480101,2	K562	blood:
18	chr5:180236713..180237305-chr7:39989209..39989914,2	Hela-S3	cervix:
19	chr5:180300564..180303174-chr5:180479013..180481556,3	K562	blood:
20	chr5:180251826..180253544-chr5:180279600..180282158,2	MCF-7	breast:
21	chr5:180228762..180230384-chr5:180272938..180275384,2	MCF-7	breast:
22	chr5:180255602..180258414-chr5:180276329..180278582,3	K562	blood:
23	chr5:180235849..180243122-chr5:180284007..180290583,16	MCF-7	breast:
24	chr5:180236072..180238455-chr5:180650563..180652075,2	K562	blood:
25	chr5:180265528..180270549-chr5:180272492..180276468,5	K562	blood:
26	chr5:180213340..180215269-chr5:180288720..180290898,2	K562	blood:
27	chr5:180264040..180267323-chr5:180286321..180289844,3	K562	blood:
28	chr5:180299852..180302725-chr5:180469235..180471904,2	K562	blood:
29	chr5:180235272..180237066-chr5:180294976..180296796,2	K562	blood:
30	chr5:180362411..180365244-chr5:180371168..180374159,2	K562	blood:
31	chr5:180261765..180263546-chr5:180263773..180266273,2	K562	blood:
32	chr5:180234969..180240620-chr5:180256376..180260296,6	K562	blood:
33	chr5:180286239..180288260-chr5:180648359..180651048,2	K562	blood:
34	chr5:180292838..180295188-chr5:180479546..180481707,2	K562	blood:
35	chr5:180293338..180295885-chr5:180297016..180299416,2	MCF-7	breast:
36	chr5:180250225..180253423-chr5:180256395..180259857,6	K562	blood:
37	chr5:180240345..180242769-chr5:180244325..180245984,3	K562	blood:
38	chr5:180414940..180417319-chr5:180418423..180420392,2	MCF-7	breast:
39	chr12:53294842..53296821-chr5:180286153..180288679,2	MCF-7	breast:
40	chr5:180287183..180290130-chr5:180290369..180292497,2	K562	blood:
41	chr5:180296152..180298050-chr5:180581910..180584887,2	K562	blood:
42	chr5:180255602..180258414-chr5:180276329..180278582,3	K562	blood:
43	chr5:180288158..180289757-chr5:180304045..180306092,2	K562	blood:
44	chr5:180264784..180266647-chr5:180275264..180277584,2	MCF-7	breast:
45	chr5:180366651..180369556-chr5:180446299..180448293,2	K562	blood:
46	chr5:180284217..180286788-chr5:180453751..180456336,2	K562	blood:
47	chr5:180253850..180256839-chr5:180278245..180279769,2	MCF-7	breast:
48	chr5:180235849..180243122-chr5:180284007..180290583,16	MCF-7	breast:
49	chr5:180295432..180298278-chr5:180593705..180595676,2	K562	blood:
50	chr5:180287893..180289951-chr5:180479708..180482492,2	K562	blood:

(count:100 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BTNL8-3	chr5:180259673-180259860	ENSG00000245060
2	lnc-ZFP62-3	chr5:180235841-180236076	NONHSAT105816
3	lnc-BTNL8-3	chr5:180256959-180258229	NONHSAT105836
4	lnc-BTNL8-3	chr5:180256959-180258595	NONHSAT105841
5	lnc-BTNL8-3	chr5:180261312-180262725	NONHSAT105841
6	lnc-MGAT1-2	chr5:180257708-180258941	XLOC_005110
7	lnc-ZFP62-3	chr5:180236364-180236875	NONHSAT105817
8	lnc-MGAT1-2	chr5:180257671-180258618	NONHSAT105835
9	lnc-BTNL8-3	chr5:180256959-180258229	NONHSAT105840
10	lnc-MGAT1-2	chr5:180257708-180258941	XLOC_005110
11	lnc-MGAT1-2	chr5:180253871-180254267	XLOC_005110
12	lnc-BTNL8-3	chr5:180256956-180257430	ENSG00000249705
13	lnc-BTNL8-1	chr5:180297962-180298361	XLOC_004685
14	lnc-BTNL8-3	chr5:180258759-180258941	NONHSAT105842
15	lnc-ZFP62-2	chr5:180274611-180275082	NONHSAT105846
16	lnc-BTNL8-3	chr5:180261312-180262726	NR_045679
17	lnc-ZFP62-3	chr5:180237649-180237920	NONHSAT105811
18	lnc-ZFP62-3	chr5:180236014-180236076	NONHSAT105818
19	lnc-BTNL8-3	chr5:180261312-180262726	ENSG00000245060
20	lnc-BTNL8-3	chr5:180261312-180262725	NONHSAT105839
21	lnc-ZFP62-2	chr5:180274611-180275082	NONHSAT105847
22	lnc-BTNL8-3	chr5:180259673-180259860	NONHSAT105840
23	lnc-BTNL8-3	chr5:180261312-180262726	NR_027183
24	lnc-MGAT1-2	chr5:180256956-180257430	ENSG00000249705
25	lnc-BTNL8-3	chr5:180258736-180258806	NONHSAT105839
26	lnc-MGAT1-2	chr5:180257608-180258229	XLOC_005110
27	lnc-ZFP62-2	chr5:180288219-180288285	NONHSAT105846
28	lnc-ZFP62-3	chr5:180242414-180242652	NONHSAT105816
29	lnc-ZFP62-2	chr5:180278381-180278493	NONHSAT105847
30	lnc-MGAT1-2	chr5:180253880-180254267	XLOC_005110
31	lnc-BTNL8-3	chr5:180258736-180258941	NONHSAT105838
32	lnc-ZFP62-1	chr5:180261303-180261596	XLOC_005111
33	lnc-BTNL8-3	chr5:180261312-180262726	ENSG00000245060
34	lnc-ZFP62-2	chr5:180287528-180287684	NONHSAT105847
35	lnc-BTNL8-3	chr5:180261312-180262725	NONHSAT105840
36	lnc-BTNL3-3	chr5:180338339-180338614	NONHSAT105850
37	lnc-BTNL8-3	chr5:180257957-180258229	NR_045679
38	lnc-MGAT1-2	chr5:180257708-180258290	XLOC_005110
39	lnc-BTNL8-3	chr5:180261312-180262725	NONHSAT105836
40	lnc-BTNL8-3	chr5:180256969-180258229	NONHSAT105843
41	lnc-ZFP62-3	chr5:180235526-180235594	NONHSAT105811
42	lnc-ZFP62-3	chr5:180235841-180236075	NONHSAT105815
43	lnc-BTNL8-3	chr5:180258024-180258229	ENSG00000245060
44	lnc-ZFP62-2	chr5:180278381-180278493	NONHSAT105846
45	lnc-ZFP62-1	chr5:180262054-180262712	XLOC_005111
46	lnc-BTNL8-3	chr5:180257957-180258229	NR_027183
47	lnc-ZFP62-3	chr5:180237192-180237503	NONHSAT105812
48	lnc-BTNL8-3	chr5:180261312-180261779	ENSG00000245060
49	lnc-BTNL8-4	chr5:180394848-180395567	NONHSAT105854
50	lnc-BTNL8-3	chr5:180258027-180258229	ENSG00000245060

No data

Variant related genes	Relation type
ENSG00000231228	TF binding region
ENSG00000248761	TF binding region
RNU6-1036P	TF binding region
ZFP62	TF binding region
ENSG00000249287	TF binding region
RPS29P12	TF binding region
BTNL3	TF binding region
LINC00847	TF binding region
BTNL8	TF binding region
ENSG00000222852	TF binding region
MGAT1	TF binding region
ENSG00000231228	CpG island
ENSG00000248761	CpG island
RNU6-1036P	CpG island
ZFP62	CpG island
ENSG00000249287	CpG island
RPS29P12	CpG island
BTNL3	CpG island
LINC00847	CpG island
BTNL8	CpG island
ENSG00000222852	CpG island
MGAT1	CpG island
ENSG00000264732	chromatin interactions
ENSG00000065883	chromatin interactions
ENSG00000245060	chromatin interactions
ENSG00000272296	chromatin interactions
ENSG00000204628	chromatin interactions
ENSG00000163635	chromatin interactions
ENSG00000259826	chromatin interactions
ENSG00000209042	chromatin interactions
ENSG00000096384	chromatin interactions
ENSG00000114209	chromatin interactions
ENSG00000113303	chromatin interactions
ENSG00000177410	chromatin interactions
ENSG00000271855	chromatin interactions
ENSG00000050748	chromatin interactions
ENSG00000248367	chromatin interactions
ENSG00000264549	chromatin interactions
ENSG00000170421	chromatin interactions
ENSG00000123358	chromatin interactions
ENSG00000141522	chromatin interactions
ENSG00000124201	chromatin interactions
ENSG00000199004	chromatin interactions
ENSG00000165810	chromatin interactions
ENSG00000163634	chromatin interactions
ENSG00000206686	chromatin interactions
ENSG00000151694	chromatin interactions
ENSG00000167799	chromatin interactions
ENSG00000182613	chromatin interactions
ENSG00000196670	chromatin interactions
ENSG00000142937	chromatin interactions
ENSG00000260841	chromatin interactions
ENSG00000131446	chromatin interactions
ENSG00000214295	chromatin interactions
ENSG00000146054	chromatin interactions
ENSG00000248514	chromatin interactions
ENSG00000250900	chromatin interactions
ENSG00000168903	chromatin interactions
ENSG00000225721	chromatin interactions
ENSG00000262413	chromatin interactions
ENSG00000248275	chromatin interactions
ENSG00000185033	chromatin interactions
ENSG00000183718	chromatin interactions
ENSG00000243664	chromatin interactions
ENSG00000222852	chromatin interactions
ENSG00000146063	chromatin interactions
SHOC2	miRNA target sites
BTG2	miRNA target sites
SOCS5	miRNA target sites
ZNF785	miRNA target sites
HEBP2	miRNA target sites
CHD9	miRNA target sites
CCNJ	miRNA target sites
RNF141	miRNA target sites
ASCC3	miRNA target sites
DMXL1	miRNA target sites
WTAP	miRNA target sites
NIN	miRNA target sites
CCDC76	miRNA target sites
SOS2	miRNA target sites
CLINT1	miRNA target sites
CDC34	miRNA target sites
RNF144A	miRNA target sites
TGFB2	miRNA target sites
IL1B	miRNA target sites

Extended variants
information (count: 7306 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:7306 , 50 per page) page: 1 2 3 4 5 6 7 ... 147

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116765207	chr5:180234139-180234140	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs568378521	chr5:180234149-180234150	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs147003192	chr5:180234169-180234170	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs547489157	chr5:180234196-180234197	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs75851256	chr5:180234198-180234199	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs577746863	chr5:180234203-180234204	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs138128041	chr5:180234207-180234208	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs573972501	chr5:180234237-180234238	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs556334591	chr5:180234306-180234307	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs187470721	chr5:180234353-180234354	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs191872609	chr5:180234355-180234356	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs555989040	chr5:180234382-180234383	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs574369473	chr5:180234407-180234408	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs540186855	chr5:180234439-180234440	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs59085476	chr5:180234440-180234441	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs75596428	chr5:180234445-180234446	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs573790163	chr5:180234467-180234468	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs183700132	chr5:180234473-180234474	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs76424903	chr5:180234481-180234482	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs562530349	chr5:180234495-180234496	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs57876091	chr5:180234514-180234515	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs548210086	chr5:180234518-180234519	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs185713057	chr5:180234519-180234520	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs527689408	chr5:180234520-180234521	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs547376840	chr5:180234620-180234621	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs371489175	chr5:180234739-180234740	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs141726094	chr5:180234800-180234801	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs375832238	chr5:180234819-180234820	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs539524170	chr5:180234839-180234840	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs549996754	chr5:180234846-180234847	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs74860941	chr5:180234849-180234850	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs150225760	chr5:180234866-180234867	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs555786443	chr5:180234885-180234886	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs369368817	chr5:180234905-180234906	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs369130888	chr5:180234907-180234908	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs573383933	chr5:180234931-180234932	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs553782951	chr5:180234983-180234984	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs190277282	chr5:180234996-180234997	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs138800304	chr5:180234997-180234998	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs149361215	chr5:180235007-180235008	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs576161215	chr5:180235017-180235018	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs182522438	chr5:180235036-180235037	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs186765977	chr5:180235042-180235043	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs568306556	chr5:180235068-180235069	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs541054825	chr5:180235087-180235088	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs565452713	chr5:180235146-180235147	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs575503515	chr5:180235157-180235158	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs564123239	chr5:180235178-180235179	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs533119577	chr5:180235190-180235191	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs146304500	chr5:180235330-180235331	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:114)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Autism	22543975	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19812545	CNVD
Mental retardation	20877625	CNVD
Medulloblastoma	21163964	CNVD
Autism	21865298	CNVD
Pancreatic cancer	17952125	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Melanoma	20877625	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:4080 , 50 per page) page: 1 2 3 4 5 6 7 ... 82

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:180230200-180234200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:180230600-180237000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr5:180230800-180234200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr5:180230800-180234800	Weak transcription	A549	lung
5	chr5:180230800-180236200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr5:180231000-180234600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr5:180231000-180235200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr5:180231000-180235200	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr5:180231200-180234400	Weak transcription	Osteobl	bone
10	chr5:180231200-180235200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr5:180231200-180236000	Genic enhancers	Placenta	Placenta
12	chr5:180231200-180236200	Genic enhancers	Fetal Muscle Leg	muscle
13	chr5:180231400-180234400	Genic enhancers	Fetal Muscle Trunk	muscle
14	chr5:180231400-180235000	Weak transcription	HSMMtube	muscle
15	chr5:180231600-180234200	Genic enhancers	K562	blood
16	chr5:180231600-180235200	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr5:180231600-180235400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr5:180231600-180235600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:180231800-180235800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr5:180232000-180235600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr5:180232200-180234800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr5:180232200-180235200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr5:180232400-180235200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr5:180232600-180234600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
25	chr5:180232800-180236800	Flanking Active TSS	Primary B cells from cord blood	blood
26	chr5:180232800-180236800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
27	chr5:180233000-180236000	Enhancers	Stomach Mucosa	stomach
28	chr5:180233200-180234200	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr5:180233200-180234200	Genic enhancers	NHLF	lung
30	chr5:180233200-180234400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr5:180233200-180234400	Genic enhancers	Right Ventricle	heart
32	chr5:180233200-180234600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr5:180233200-180234600	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr5:180233200-180234800	Enhancers	HUVEC	blood vessel
35	chr5:180233200-180235000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr5:180233200-180235200	Transcr. at gene 5' and 3'	Dnd41	blood
37	chr5:180233200-180236000	Genic enhancers	Left Ventricle	heart
38	chr5:180233200-180236400	Enhancers	Fetal Heart	heart
39	chr5:180233200-180236400	Enhancers	Pancreas	Pancrea
40	chr5:180233200-180236600	Flanking Active TSS	Primary T cells from cord blood	blood
41	chr5:180233200-180237000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr5:180233400-180234200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
43	chr5:180233400-180234200	Flanking Active TSS	Primary hematopoietic stem cells	blood
44	chr5:180233400-180234200	Genic enhancers	Cortex derived primary cultured neurospheres	brain
45	chr5:180233400-180234200	Enhancers	Ovary	ovary
46	chr5:180233400-180234200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr5:180233400-180234200	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
48	chr5:180233400-180234400	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr5:180233400-180234400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr5:180233400-180234400	Flanking Active TSS	Colon Smooth Muscle	Colon

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