Variant report

Variant	nsv820020
Chromosome Location	chr5:180260902-180432533
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1500)
CpG islands
(count:2992)
Chromatin interactive
region (count:159)
LncRNA
region (count:28)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1500 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr5:180288318-180288726	H1-hESC	embryonic stem cell:	n/a	n/a
2	ATF2	chr5:180287523-180287977	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr5:180287641-180288731	GM12878	blood:	n/a	n/a
4	ATF2	chr5:180295130-180295721	GM12878	blood:	n/a	n/a
5	ATF3	chr5:180300916-180301148	K562	blood:	n/a	n/a
6	ATF3	chr5:180266949-180267264	K562	blood:	n/a	n/a
7	ATF3	chr5:180300831-180301293	K562	blood:	n/a	n/a
8	BATF	chr5:180336078-180336346	GM12878	blood:	n/a	n/a
9	BATF	chr5:180300882-180301218	GM12878	blood:	n/a	n/a
10	BATF	chr5:180295359-180295616	GM12878	blood:	n/a	n/a
11	BATF	chr5:180300881-180301195	GM12878	blood:	n/a	n/a
12	BATF	chr5:180295385-180295684	GM12878	blood:	n/a	n/a
13	BCL11A	chr5:180402385-180402643	GM12878	blood:	n/a	chr5:180402541-180402550
14	BCL3	chr5:180287597-180288561	A549	lung:	n/a	chr5:180288052-180288061 chr5:180287721-180287730
15	BCLAF1	chr5:180287393-180288777	GM12878	blood:	n/a	chr5:180288589-180288598 chr5:180288052-180288061 chr5:180287721-180287730
16	BCLAF1	chr5:180287607-180288667	GM12878	blood:	n/a	chr5:180288589-180288598 chr5:180288052-180288061 chr5:180287721-180287730
17	BCLAF1	chr5:180287997-180288590	K562	blood:	n/a	chr5:180288052-180288061
18	BCLAF1	chr5:180288001-180288500	K562	blood:	n/a	chr5:180288052-180288061
19	CBX3	chr5:180365297-180365622	K562	blood:	n/a	n/a
20	CBX3	chr5:180277408-180278141	HCT-116	colon:	n/a	n/a
21	CBX3	chr5:180295820-180296390	K562	blood:	n/a	n/a
22	CBX3	chr5:180365208-180365610	HCT-116	colon:	n/a	n/a
23	CBX3	chr5:180277464-180277788	K562	blood:	n/a	n/a
24	CBX3	chr5:180312826-180313332	K562	blood:	n/a	n/a
25	CBX3	chr5:180300400-180301493	K562	blood:	n/a	n/a
26	CBX3	chr5:180275961-180276367	K562	blood:	n/a	n/a
27	CBX3	chr5:180287631-180288621	K562	blood:	n/a	n/a
28	CBX3	chr5:180351911-180352108	K562	blood:	n/a	n/a
29	CBX3	chr5:180300550-180301335	K562	blood:	n/a	n/a
30	CBX3	chr5:180276855-180278276	K562	blood:	n/a	n/a
31	CEBPB	chr5:180342869-180343258	MCF-7	breast:	n/a	n/a
32	CEBPB	chr5:180300960-180301219	K562	blood:	n/a	n/a
33	CEBPB	chr5:180336344-180336591	K562	blood:	n/a	n/a
34	CEBPB	chr5:180275309-180275621	MCF-7	breast:	n/a	n/a
35	CEBPB	chr5:180275206-180275626	MCF-7	breast:	n/a	n/a
36	CEBPB	chr5:180300813-180301574	K562	blood:	n/a	n/a
37	CEBPD	chr5:180287915-180288448	HepG2	liver:	n/a	n/a
38	CREB1	chr5:180287381-180288825	H1-hESC	embryonic stem cell:	n/a	n/a
39	CREB1	chr5:180287552-180288698	HepG2	liver:	n/a	n/a
40	CREB1	chr5:180287478-180288760	GM12878	blood:	n/a	n/a
41	CREB1	chr5:180287950-180288640	A549	lung:	n/a	n/a
42	CREB1	chr5:180288123-180288402	A549	lung:	n/a	n/a
43	CTCF	chr5:180287740-180287890	WERI-Rb-1	eye:	n/a	n/a
44	CTCF	chr5:180290980-180291130	K562	blood:	n/a	n/a
45	CTCF	chr5:180313098-180313217	MCF-7	breast:	n/a	n/a
46	CTCF	chr5:180287680-180287861	HepG2	liver:	n/a	n/a
47	CTCF	chr5:180296032-180296286	LNCaP	prostate:	n/a	n/a
48	CTCF	chr5:180296060-180296210	HVMF	connective:	n/a	n/a
49	CTCF	chr5:180291054-180291080	MCF-7	breast:	n/a	n/a
50	CTCF	chr5:180341780-180341930	WI-38	lung:	n/a	n/a

(count:2992 , 50 per page) page: 1 2 3 4 5 6 7 ... 60

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:180276718-180276768	ovcar-3	ovarian:	n/a
2	chr5:180288206-180288256	LNCaP	prostate:	n/a
3	chr5:180338435-180338485	A549	lung:	n/a
4	chr5:180276718-180276768	ovcar-3	ovarian:	n/a
5	chr5:180288206-180288256	LNCaP	prostate:	n/a
6	chr5:180338435-180338485	A549	lung:	n/a
7	chr5:180408809-180408859	GM12892	blood:	n/a
8	chr5:180288729-180288779	GM12878	blood:	n/a
9	chr5:180338435-180338485	GM19239	blood:	n/a
10	chr5:180286037-180286087	ECC-1	luminal epithelium:	n/a
11	chr5:180287685-180287735	RPTEC	kidney:	n/a
12	chr5:180377617-180377667	MCF-7	breast:	n/a
13	chr5:180325579-180325629	SK-N-SH_RA	brain:	n/a
14	chr5:180287685-180287735	HCPEpiC	choroid plexus:	n/a
15	chr5:180335722-180335772	NH-A	brain:	n/a
16	chr5:180408813-180408863	HEEpiC	esophagus:	n/a
17	chr5:180288554-180288604	CMK	blood:	n/a
18	chr5:180326186-180326236	K562	blood:	n/a
19	chr5:180287685-180287735	NT2-D1	testis:	n/a
20	chr5:180325969-180326019	HNPCEpiC	eye:	n/a
21	chr5:180288554-180288604	HepG2	liver:	n/a
22	chr5:180429512-180429562	H1-hESC	embryonic stem cell:	embryo
23	chr5:180408785-180408835	HIPEpiC	eye:	n/a
24	chr5:180326142-180326192	HEEpiC	esophagus:	n/a
25	chr5:180397910-180397960	HCPEpiC	choroid plexus:	n/a
26	chr5:180288855-180288905	HNPCEpiC	eye:	n/a
27	chr5:180296196-180296246	BJ	skin:	n/a
28	chr5:180396076-180396126	Hela-S3	cervix:	n/a
29	chr5:180287825-180287875	GM12878	blood:	n/a
30	chr5:180288554-180288604	ovcar-3	ovarian:	n/a
31	chr5:180286037-180286087	ProgFib	skin:	n/a
32	chr5:180397910-180397960	AoSMC	blood vessel:	n/a
33	chr5:180288729-180288779	AoSMC	blood vessel:	n/a
34	chr5:180287825-180287875	HRCEpiC	kidney:	n/a
35	chr5:180428536-180428586	CMK	blood:	n/a
36	chr5:180324804-180324854	T-47D	breast:	n/a
37	chr5:180408813-180408863	NB4	blood:	n/a
38	chr5:180276718-180276768	BJ	skin:	n/a
39	chr5:180262649-180262699	GM12891	blood:	n/a
40	chr5:180397383-180397433	HCF	heart:	n/a
41	chr5:180377617-180377667	SK-N-SH_RA	brain:	n/a
42	chr5:180325254-180325304	LNCaP	prostate:	n/a
43	chr5:180408813-180408863	HRE	kidney:	n/a
44	chr5:180288995-180289045	MCF-7	breast:	n/a
45	chr5:180287825-180287875	MCF-7	breast:	n/a
46	chr5:180397496-180397546	NHBE	bronchial:	n/a
47	chr5:180292677-180292727	T-47D	breast:	n/a
48	chr5:180396891-180396941	HNPCEpiC	eye:	n/a
49	chr5:180272367-180272417	HIPEpiC	eye:	n/a
50	chr5:180287559-180287609	H1-hESC	embryonic stem cell:	embryo

(count:159 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr5:180271906..180274510-chr5:180287951..180290911,3	K562	blood:
2	chr5:180232261..180234986-chr5:180281971..180283727,2	MCF-7	breast:
3	chr5:180260759..180263292-chr5:180278934..180280506,2	K562	blood:
4	chr5:180288412..180290670-chr5:180581214..180583191,2	MCF-7	breast:
5	chr5:180253850..180256839-chr5:180278245..180279769,2	MCF-7	breast:
6	chr5:180229757..180232364-chr5:180289807..180291765,2	K562	blood:
7	chr5:180235621..180237447-chr5:180275097..180276820,2	K562	blood:
8	chr5:180301093..180303783-chr5:180304288..180306195,2	K562	blood:
9	chr5:180326248..180328763-chr5:180336023..180337765,2	MCF-7	breast:
10	chr5:180286239..180288260-chr5:180648359..180651048,2	K562	blood:
11	chr5:180282542..180284209-chr5:180286607..180288204,2	K562	blood:
12	chr5:180236416..180238492-chr5:180291325..180292894,2	K562	blood:
13	chr5:180264302..180266196-chr5:180270901..180273309,2	MCF-7	breast:
14	chr5:180226982..180228709-chr5:180280762..180282451,2	K562	blood:
15	chr5:180300732..180302453-chr5:180517860..180520718,2	K562	blood:
16	chr5:180288449..180290237-chr5:180454877..180456790,2	K562	blood:
17	chr5:180287191..180290968-chr5:180649202..180652395,5	MCF-7	breast:
18	chr5:180295432..180298278-chr5:180593705..180595676,2	K562	blood:
19	chr5:180288105..180290021-chr5:180298126..180300991,2	MCF-7	breast:
20	chr5:180301093..180303783-chr5:180304288..180306195,2	K562	blood:
21	chr5:180254080..180259696-chr5:180286312..180289720,8	MCF-7	breast:
22	chr5:180260759..180263292-chr5:180278934..180280506,2	K562	blood:
23	chr5:180260120..180262465-chr5:180285542..180288192,2	MCF-7	breast:
24	chr5:180299852..180302725-chr5:180469235..180471904,2	K562	blood:
25	chr5:180251826..180253544-chr5:180279600..180282158,2	MCF-7	breast:
26	chr5:180264784..180266647-chr5:180275264..180277584,2	MCF-7	breast:
27	chr5:180373036..180375513-chr5:180433758..180436543,3	K562	blood:
28	chr5:180285636..180289951-chr5:180479678..180484106,8	K562	blood:
29	chr5:180234090..180241537-chr5:180284888..180291277,19	K562	blood:
30	chr5:180366651..180369556-chr5:180446299..180448293,2	K562	blood:
31	chr5:180266275..180269354-chr5:180269662..180271992,3	MCF-7	breast:
32	chr5:180265528..180270549-chr5:180272492..180276468,5	K562	blood:
33	chr5:180293338..180295885-chr5:180297016..180299416,2	MCF-7	breast:
34	chr5:180227376..180231453-chr5:180286019..180289801,4	K562	blood:
35	chr5:180271717..180273792-chr5:180431627..180434516,2	K562	blood:
36	chr1:25167211..25168731-chr5:180328916..180330517,2	K562	blood:
37	chr5:180296198..180297824-chr5:180477910..180480531,2	K562	blood:
38	chr5:180260152..180261923-chr5:180263994..180266988,2	MCF-7	breast:
39	chr5:180256710..180258526-chr5:180275474..180278085,2	MCF-7	breast:
40	chr5:180300564..180303174-chr5:180479013..180481556,3	K562	blood:
41	chr5:180260907..180268562-chr5:180284401..180289844,9	K562	blood:
42	chr5:180287183..180290130-chr5:180290369..180292497,2	K562	blood:
43	chr5:180276937..180279387-chr5:180687663..180690580,3	MCF-7	breast:
44	chr5:179949366..179951227-chr5:180284274..180286708,2	K562	blood:
45	chr5:180262394..180264164-chr5:180266350..180269420,3	K562	blood:
46	chr5:180287183..180291291-chr5:180291663..180297745,12	MCF-7	breast:
47	chr5:180256272..180261271-chr5:180284313..180290761,15	MCF-7	breast:
48	chr5:180280752..180284209-chr5:180285906..180288565,5	K562	blood:
49	chr5:180276415..180280791-chr5:180286128..180289420,6	K562	blood:
50	chr5:180298037..180300826-chr5:180632111..180634844,2	MCF-7	breast:

(count:28 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BTNL8-3	chr5:180261312-180262726	ENSG00000245060
2	lnc-BTNL8-4	chr5:180394848-180395567	NONHSAT105854
3	lnc-ZFP62-1	chr5:180261303-180261596	XLOC_005111
4	lnc-BTNL3-3	chr5:180374512-180375353	NONHSAT105850
5	lnc-BTNL8-3	chr5:180261312-180262725	NONHSAT105837
6	lnc-BTNL8-3	chr5:180261312-180262726	ENSG00000245060
7	lnc-BTNL8-3	chr5:180261312-180261779	ENSG00000245060
8	lnc-BTNL8-1	chr5:180297962-180298361	XLOC_004685
9	lnc-BTNL8-3	chr5:180261312-180262726	NR_027183
10	lnc-BTNL8-3	chr5:180261312-180262726	NR_045679
11	lnc-BTNL8-3	chr5:180261312-180262725	NONHSAT105838
12	lnc-BTNL8-3	chr5:180261312-180262725	NONHSAT105842
13	lnc-BTNL8-3	chr5:180261312-180262725	NONHSAT105841
14	lnc-BTNL8-1	chr5:180296862-180296969	XLOC_004685
15	lnc-ZFP62-2	chr5:180288219-180288285	NONHSAT105846
16	lnc-ZFP62-2	chr5:180274611-180275082	NONHSAT105847
17	lnc-ZFP62-1	chr5:180262054-180262712	XLOC_005111
18	lnc-ZFP62-2	chr5:180274611-180275082	NONHSAT105846
19	lnc-BTNL8-3	chr5:180261312-180262725	NONHSAT105840
20	lnc-ZFP62-2	chr5:180278381-180278493	NONHSAT105846
21	lnc-BTNL3-3	chr5:180336573-180336697	NONHSAT105850
22	lnc-ZFP62-2	chr5:180278988-180279060	NONHSAT105846
23	lnc-ZFP62-2	chr5:180287528-180287684	NONHSAT105847
24	lnc-BTNL8-3	chr5:180261312-180262725	NONHSAT105836
25	lnc-BTNL8-3	chr5:180261312-180261871	ENSG00000245060
26	lnc-BTNL3-3	chr5:180338339-180338614	NONHSAT105850
27	lnc-ZFP62-2	chr5:180278381-180278493	NONHSAT105847
28	lnc-BTNL8-3	chr5:180261312-180262725	NONHSAT105839

No data

Variant related genes	Relation type
BTNL8	TF binding region
ENSG00000222852	TF binding region
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
BTNL8	CpG island
ENSG00000222852	CpG island
ENSG00000231228	CpG island
ENSG00000248761	CpG island
RNU6-1036P	CpG island
ZFP62	CpG island
ENSG00000249287	CpG island
RPS29P12	CpG island
BTNL3	CpG island
ENSG00000124201	chromatin interactions
ENSG00000248514	chromatin interactions
ENSG00000264549	chromatin interactions
ENSG00000206686	chromatin interactions
ENSG00000141522	chromatin interactions
ENSG00000131446	chromatin interactions
ENSG00000168903	chromatin interactions
ENSG00000177410	chromatin interactions
ENSG00000146054	chromatin interactions
ENSG00000142937	chromatin interactions
ENSG00000196670	chromatin interactions
ENSG00000272296	chromatin interactions
ENSG00000245060	chromatin interactions
ENSG00000204628	chromatin interactions
ENSG00000183718	chromatin interactions
ENSG00000182613	chromatin interactions
ENSG00000146063	chromatin interactions
ENSG00000170421	chromatin interactions
ENSG00000214295	chromatin interactions
ENSG00000123358	chromatin interactions
ENSG00000165810	chromatin interactions
ENSG00000199004	chromatin interactions
ENSG00000222852	chromatin interactions
ENSG00000113303	chromatin interactions
ENSG00000264732	chromatin interactions
ENSG00000243664	chromatin interactions
ENSG00000260841	chromatin interactions
ENSG00000262413	chromatin interactions
ENSG00000248275	chromatin interactions
ENSG00000225721	chromatin interactions
ENSG00000209042	chromatin interactions
NIN	miRNA target sites
HEBP2	miRNA target sites
ZNF785	miRNA target sites
IL1B	miRNA target sites
WTAP	miRNA target sites
CLINT1	miRNA target sites

Extended variants
information (count: 5841 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:5841 , 50 per page) page: 1 2 3 4 5 6 7 ... 117

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373148720	chr5:180260921-180260922	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs573031260	chr5:180260946-180260947	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs545324327	chr5:180260961-180260962	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs558570961	chr5:180260982-180260983	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs148783665	chr5:180261028-180261029	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs58476480	chr5:180261033-180261034	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs115256790	chr5:180261058-180261059	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs372979230	chr5:180261059-180261060	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs575505937	chr5:180261068-180261069	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs139751254	chr5:180261080-180261081	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs186515774	chr5:180261095-180261096	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs532558839	chr5:180261096-180261097	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs370306399	chr5:180261130-180261131	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs376852511	chr5:180261152-180261153	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs569431552	chr5:180261171-180261172	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs530564921	chr5:180261180-180261181	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs550322597	chr5:180261187-180261188	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs386695820	chr5:180261218-180261219	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs60464422	chr5:180261219-180261220	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs77313653	chr5:180261246-180261247	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs187501842	chr5:180261279-180261280	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs549288081	chr5:180261320-180261321	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
23	rs113628008	chr5:180261335-180261336	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
24	rs555545549	chr5:180261344-180261345	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
25	rs192757592	chr5:180261366-180261367	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
26	rs565897123	chr5:180261369-180261370	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
27	rs569167009	chr5:180261391-180261392	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
28	rs554547849	chr5:180261408-180261409	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
29	rs370777184	chr5:180261441-180261442	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
30	rs373387665	chr5:180261452-180261453	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
31	rs570863430	chr5:180261464-180261465	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
32	rs149358377	chr5:180261469-180261470	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
33	rs574451886	chr5:180261471-180261472	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
34	rs146834150	chr5:180261492-180261493	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
35	rs534809597	chr5:180261506-180261507	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
36	rs540368352	chr5:180261582-180261583	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
37	rs546248193	chr5:180261646-180261647	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
38	rs373810305	chr5:180261648-180261649	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
39	rs559816799	chr5:180261680-180261681	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
40	rs560213226	chr5:180261704-180261705	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
41	rs537340885	chr5:180261752-180261753	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
42	rs546066935	chr5:180261763-180261764	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
43	rs563066335	chr5:180261796-180261797	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
44	rs531913514	chr5:180261911-180261912	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
45	rs61632263	chr5:180261938-180261939	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
46	rs532036743	chr5:180261977-180261978	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
47	rs548858285	chr5:180262011-180262012	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
48	rs183201515	chr5:180262076-180262077	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
49	rs140905005	chr5:180262186-180262187	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
50	rs551854038	chr5:180262195-180262196	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:113)

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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	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

Chromatin state (count:1980 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:180259000-180264400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:180259000-180272600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:180259400-180261400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr5:180259400-180261400	Weak transcription	Aorta	Aorta
5	chr5:180259400-180261600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr5:180259400-180261600	Weak transcription	Fetal Intestine Large	intestine
7	chr5:180259400-180261600	Weak transcription	Ovary	ovary
8	chr5:180259400-180262200	Weak transcription	HSMMtube	muscle
9	chr5:180259400-180263600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr5:180259400-180271400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr5:180259400-180273600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr5:180259600-180261400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr5:180259600-180262000	Weak transcription	HSMM	muscle
14	chr5:180259600-180264600	Weak transcription	HMEC	breast
15	chr5:180259600-180272400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr5:180259600-180272600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr5:180259800-180261200	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr5:180259800-180262000	Weak transcription	Fetal Brain Female	brain
19	chr5:180259800-180262000	Weak transcription	Fetal Lung	lung
20	chr5:180259800-180276800	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr5:180260000-180261200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr5:180260000-180261200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr5:180260000-180261200	Weak transcription	Fetal Intestine Small	intestine
24	chr5:180260000-180261200	Weak transcription	Placenta	Placenta
25	chr5:180260000-180261200	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr5:180260000-180261400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr5:180260000-180261400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr5:180260000-180261400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr5:180260000-180261400	Weak transcription	Esophagus	oesophagus
30	chr5:180260000-180261400	Weak transcription	Fetal Stomach	stomach
31	chr5:180260000-180261400	Weak transcription	Gastric	stomach
32	chr5:180260000-180261400	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr5:180260000-180261600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr5:180260000-180261600	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr5:180260000-180261600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr5:180260000-180261600	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr5:180260000-180261600	Weak transcription	Right Ventricle	heart
38	chr5:180260000-180261600	Weak transcription	A549	lung
39	chr5:180260000-180261600	Weak transcription	Osteobl	bone
40	chr5:180260000-180261800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr5:180260000-180261800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr5:180260000-180261800	Weak transcription	Brain Angular Gyrus	brain
43	chr5:180260000-180261800	Weak transcription	NHLF	lung
44	chr5:180260000-180262000	Weak transcription	Pancreas	Pancrea
45	chr5:180260000-180264000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr5:180260000-180268800	Weak transcription	Brain Germinal Matrix	brain
47	chr5:180260000-180271400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr5:180260000-180273200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr5:180260000-180273800	Weak transcription	Fetal Kidney	kidney
50	chr5:180260000-180274400	Weak transcription	Muscle Satellite Cultured Cells	--

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