Variant report

Variant	nsv538005
Chromosome Location	chr5:180251695-180447744
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1997)
CpG islands
(count:3729)
Chromatin interactive
region (count:186)
LncRNA
region (count:80)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1997 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr5:180258377-180258920	GM12878	blood:	n/a	n/a
2	ATF2	chr5:180257642-180258201	GM12878	blood:	n/a	n/a
3	ATF2	chr5:180287523-180287977	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr5:180287641-180288731	GM12878	blood:	n/a	n/a
5	ATF2	chr5:180257705-180258044	GM12878	blood:	n/a	n/a
6	ATF2	chr5:180295130-180295721	GM12878	blood:	n/a	n/a
7	ATF2	chr5:180259450-180260089	GM12878	blood:	n/a	n/a
8	ATF2	chr5:180288318-180288726	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF3	chr5:180300831-180301293	K562	blood:	n/a	n/a
10	ATF3	chr5:180300916-180301148	K562	blood:	n/a	n/a
11	ATF3	chr5:180258535-180258898	A549	lung:	n/a	n/a
12	ATF3	chr5:180266949-180267264	K562	blood:	n/a	n/a
13	BATF	chr5:180336078-180336346	GM12878	blood:	n/a	n/a
14	BATF	chr5:180300881-180301195	GM12878	blood:	n/a	n/a
15	BATF	chr5:180300882-180301218	GM12878	blood:	n/a	n/a
16	BATF	chr5:180295359-180295616	GM12878	blood:	n/a	n/a
17	BATF	chr5:180295385-180295684	GM12878	blood:	n/a	n/a
18	BCL11A	chr5:180402385-180402643	GM12878	blood:	n/a	chr5:180402541-180402550
19	BCL3	chr5:180258428-180259048	A549	lung:	n/a	n/a
20	BCL3	chr5:180258428-180258981	A549	lung:	n/a	n/a
21	BCL3	chr5:180257765-180258237	A549	lung:	n/a	n/a
22	BCL3	chr5:180287597-180288561	A549	lung:	n/a	chr5:180288052-180288061 chr5:180287721-180287730
23	BCLAF1	chr5:180257793-180258873	GM12878	blood:	n/a	n/a
24	BCLAF1	chr5:180288001-180288500	K562	blood:	n/a	chr5:180288052-180288061
25	BCLAF1	chr5:180287607-180288667	GM12878	blood:	n/a	chr5:180288589-180288598 chr5:180288052-180288061 chr5:180287721-180287730
26	BCLAF1	chr5:180259390-180260221	GM12878	blood:	n/a	chr5:180259952-180259965 chr5:180259629-180259638
27	BCLAF1	chr5:180287393-180288777	GM12878	blood:	n/a	chr5:180288589-180288598 chr5:180288052-180288061 chr5:180287721-180287730
28	BCLAF1	chr5:180287997-180288590	K562	blood:	n/a	chr5:180288052-180288061
29	BCLAF1	chr5:180257580-180258891	GM12878	blood:	n/a	n/a
30	CBX3	chr5:180295820-180296390	K562	blood:	n/a	n/a
31	CBX3	chr5:180351911-180352108	K562	blood:	n/a	n/a
32	CBX3	chr5:180277464-180277788	K562	blood:	n/a	n/a
33	CBX3	chr5:180276855-180278276	K562	blood:	n/a	n/a
34	CBX3	chr5:180287631-180288621	K562	blood:	n/a	n/a
35	CBX3	chr5:180300400-180301493	K562	blood:	n/a	n/a
36	CBX3	chr5:180255752-180256324	K562	blood:	n/a	n/a
37	CBX3	chr5:180256725-180258272	K562	blood:	n/a	n/a
38	CBX3	chr5:180300550-180301335	K562	blood:	n/a	n/a
39	CBX3	chr5:180365297-180365622	K562	blood:	n/a	n/a
40	CBX3	chr5:180365208-180365610	HCT-116	colon:	n/a	n/a
41	CBX3	chr5:180253096-180253684	HCT-116	colon:	n/a	n/a
42	CBX3	chr5:180258360-180258953	K562	blood:	n/a	n/a
43	CBX3	chr5:180255728-180256481	K562	blood:	n/a	n/a
44	CBX3	chr5:180277408-180278141	HCT-116	colon:	n/a	n/a
45	CBX3	chr5:180275961-180276367	K562	blood:	n/a	n/a
46	CBX3	chr5:180312826-180313332	K562	blood:	n/a	n/a
47	CEBPB	chr5:180253039-180253717	ECC-1	luminal epithelium:	n/a	n/a
48	CEBPB	chr5:180275309-180275621	MCF-7	breast:	n/a	n/a
49	CEBPB	chr5:180253025-180253412	MCF-7	breast:	n/a	n/a
50	CEBPB	chr5:180336344-180336591	K562	blood:	n/a	n/a

(count:3729 , 50 per page) page: 1 2 3 4 5 6 7 ... 75

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:180397383-180397433	NT2-D1	testis:	n/a
2	chr5:180325954-180326004	HMEC	breast:	n/a
3	chr5:180326142-180326192	NB4	blood:	n/a
4	chr5:180324804-180324854	AoSMC	blood vessel:	n/a
5	chr5:180396076-180396126	ProgFib	skin:	n/a
6	chr5:180375511-180375561	Caco-2	colon:	n/a
7	chr5:180256930-180256980	H1-hESC	embryonic stem cell:	embryo
8	chr5:180258557-180258607	HEK293	kidney:	embryo
9	chr5:180397383-180397433	NT2-D1	testis:	n/a
10	chr5:180325954-180326004	HMEC	breast:	n/a
11	chr5:180326142-180326192	NB4	blood:	n/a
12	chr5:180324804-180324854	AoSMC	blood vessel:	n/a
13	chr5:180396076-180396126	ProgFib	skin:	n/a
14	chr5:180375511-180375561	Caco-2	colon:	n/a
15	chr5:180256930-180256980	H1-hESC	embryonic stem cell:	embryo
16	chr5:180258557-180258607	HEK293	kidney:	embryo
17	chr5:180288995-180289045	PrEC	prostate:	n/a
18	chr5:180256781-180256831	NHBE	bronchial:	n/a
19	chr5:180256781-180256831	MCF10A-Er-Src	breast:	n/a
20	chr5:180286037-180286087	ovcar-3	ovarian:	n/a
21	chr5:180408809-180408859	HEK293	kidney:	embryo
22	chr5:180262649-180262699	GM12892	blood:	n/a
23	chr5:180396687-180396737	HRE	kidney:	n/a
24	chr5:180428536-180428586	HIPEpiC	eye:	n/a
25	chr5:180288554-180288604	U87	brain:	n/a
26	chr5:180276718-180276768	HCM	heart:	n/a
27	chr5:180377617-180377667	AG04450	lung:	fetal
28	chr5:180258557-180258607	SKMC	muscle:	n/a
29	chr5:180397383-180397433	GM12891	blood:	n/a
30	chr5:180258654-180258704	PFSK-1	brain:	n/a
31	chr5:180433174-180433224	HCF	heart:	n/a
32	chr5:180408813-180408863	AG09319	gingival:	n/a
33	chr5:180286118-180286168	GM12878	blood:	n/a
34	chr5:180276718-180276768	ovcar-3	ovarian:	n/a
35	chr5:180428536-180428586	AG04449	skin:	fetal
36	chr5:180287825-180287875	ProgFib	skin:	n/a
37	chr5:180429512-180429562	HCT-116	colon:	n/a
38	chr5:180408813-180408863	HNPCEpiC	eye:	n/a
39	chr5:180272367-180272417	ovcar-3	ovarian:	n/a
40	chr5:180288206-180288256	PANC-1	pancreas:	n/a
41	chr5:180326142-180326192	GM12878	blood:	n/a
42	chr5:180288554-180288604	GM06990	blood:	n/a
43	chr5:180408809-180408859	Caco-2	colon:	n/a
44	chr5:180415938-180415988	MCF-7	breast:	n/a
45	chr5:180288729-180288779	RPTEC	kidney:	n/a
46	chr5:180408785-180408835	NT2-D1	testis:	n/a
47	chr5:180336487-180336537	MCF10A-Er-Src	breast:	n/a
48	chr5:180396076-180396126	GM19239	blood:	n/a
49	chr5:180295053-180295103	GM06990	blood:	n/a
50	chr5:180287559-180287609	GM12891	blood:	n/a

(count:186 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr5:180264302..180266196-chr5:180270901..180273309,2	MCF-7	breast:
2	chr5:180264302..180266196-chr5:180270901..180273309,2	MCF-7	breast:
3	chr5:180288725..180290968-chr5:180526833..180528373,2	K562	blood:
4	chr5:180253850..180256839-chr5:180278245..180279769,2	MCF-7	breast:
5	chr5:180229757..180232364-chr5:180289807..180291765,2	K562	blood:
6	chr5:180255616..180259441-chr5:180261236..180265313,7	MCF-7	breast:
7	chr5:180293338..180295885-chr5:180297016..180299416,2	MCF-7	breast:
8	chr5:180236682..180239556-chr5:180248711..180254561,5	K562	blood:
9	chr5:180261765..180263546-chr5:180263773..180266273,2	K562	blood:
10	chr5:180276415..180280791-chr5:180286128..180289420,6	K562	blood:
11	chr5:180445647..180448628-chr5:180448670..180450227,2	MCF-7	breast:
12	chr5:180250096..180252900-chr5:180253508..180255247,2	K562	blood:
13	chr5:180257440..180260196-chr5:180299299..180300972,2	K562	blood:
14	chr5:180254080..180259696-chr5:180286312..180289720,8	MCF-7	breast:
15	chr5:180247524..180249478-chr5:180249893..180253077,3	MCF-7	breast:
16	chr5:180247995..180251777-chr5:180263221..180266186,4	K562	blood:
17	chr5:180336034..180338879-chr5:180339862..180342004,2	K562	blood:
18	chr5:180295710..180296339-chr5:180482283..180482883,2	MCF-7	breast:
19	chr5:180264784..180266647-chr5:180275264..180277584,2	MCF-7	breast:
20	chr5:180258728..180261029-chr5:180274909..180276877,2	K562	blood:
21	chr12:52444634..52445313-chr5:180287371..180288294,2	Hela-S3	cervix:
22	chr5:180288412..180290670-chr5:180581214..180583191,2	MCF-7	breast:
23	chr5:180217957..180220948-chr5:180429295..180431970,2	K562	blood:
24	chr5:180287191..180290968-chr5:180649202..180652395,5	MCF-7	breast:
25	chr5:180256399..180259891-chr5:180287425..180289762,3	K562	blood:
26	chr5:180366651..180369556-chr5:180446299..180448293,2	K562	blood:
27	chr5:180228090..180233792-chr5:180285929..180290144,13	MCF-7	breast:
28	chr5:180301093..180303783-chr5:180304288..180306195,2	K562	blood:
29	chr5:180255602..180258511-chr5:180276329..180279939,4	K562	blood:
30	chr5:180299531..180301189-chr5:180314779..180317197,2	MCF-7	breast:
31	chr5:180251998..180254373-chr5:180288462..180290052,2	MCF-7	breast:
32	chr5:180235539..180242527-chr5:180285126..180289932,26	MCF-7	breast:
33	chr1:45240723..45241532-chr5:180288059..180288632,2	Hela-S3	cervix:
34	chr5:180235621..180237447-chr5:180275097..180276820,2	K562	blood:
35	chr5:180445578..180447116-chr5:180456008..180457660,2	K562	blood:
36	chr5:180256399..180259891-chr5:180287425..180289762,3	K562	blood:
37	chr5:180258091..180260121-chr5:180265803..180269269,3	MCF-7	breast:
38	chr5:180235524..180237646-chr5:180274342..180276820,3	K562	blood:
39	chr5:180255602..180258414-chr5:180276329..180278582,3	K562	blood:
40	chr5:180271906..180274510-chr5:180288158..180290911,2	K562	blood:
41	chr5:180373036..180375513-chr5:180433758..180436543,3	K562	blood:
42	chr5:180267794..180270369-chr5:180276389..180279164,3	K562	blood:
43	chr5:180250225..180253423-chr5:180256395..180259857,6	K562	blood:
44	chr5:180260203..180262086-chr5:180324747..180326847,2	K562	blood:
45	chr5:180264886..180266975-chr5:180282488..180284131,2	K562	blood:
46	chr5:180295834..180298711-chr5:180519174..180521496,2	K562	blood:
47	chr5:180326248..180328763-chr5:180336023..180337765,2	MCF-7	breast:
48	chr5:180255602..180258414-chr5:180276329..180278582,3	K562	blood:
49	chr5:180264404..180267379-chr5:180277476..180279770,3	K562	blood:
50	chr5:180261765..180263546-chr5:180263773..180266273,2	K562	blood:

(count:80 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BTNL8-3	chr5:180261312-180262725	NONHSAT105837
2	lnc-BTNL8-3	chr5:180261312-180262726	ENSG00000245060
3	lnc-BTNL8-3	chr5:180259673-180259860	NONHSAT105840
4	lnc-BTNL8-3	chr5:180258736-180258941	NONHSAT105838
5	lnc-BTNL8-3	chr5:180256956-180257430	ENSG00000249705
6	lnc-MGAT1-2	chr5:180257008-180257406	XLOC_005110
7	lnc-BTNL8-3	chr5:180256959-180258229	NONHSAT105840
8	lnc-BTNL8-3	chr5:180258736-180258806	NONHSAT105839
9	lnc-BTNL8-3	chr5:180261312-180262726	ENSG00000245060
10	lnc-BTNL8-3	chr5:180256959-180258229	NONHSAT105839
11	lnc-BTNL8-3	chr5:180256959-180258229	NONHSAT105836
12	lnc-BTNL8-3	chr5:180258663-180258806	NONHSAT105841
13	lnc-BTNL8-3	chr5:180256959-180258595	NONHSAT105841
14	lnc-BTNL8-3	chr5:180258027-180258229	ENSG00000245060
15	lnc-MGAT1-2	chr5:180256937-180257403	XLOC_005110
16	lnc-BTNL8-3	chr5:180259673-180259860	NR_045679
17	lnc-BTNL8-3	chr5:180261312-180262725	NONHSAT105840
18	lnc-BTNL8-3	chr5:180258024-180258229	ENSG00000245060
19	lnc-MGAT1-2	chr5:180256956-180257429	NONHSAT105835
20	lnc-BTNL8-3	chr5:180258759-180258941	NONHSAT105842
21	lnc-BTNL8-3	chr5:180256959-180258806	NONHSAT105837
22	lnc-ZFP62-1	chr5:180261303-180261596	XLOC_005111
23	lnc-BTNL8-3	chr5:180257672-180258618	ENSG00000249705
24	lnc-MGAT1-2	chr5:180253868-180254267	XLOC_005110
25	lnc-BTNL8-3	chr5:180258736-180258941	NR_027183
26	lnc-BTNL8-3	chr5:180261312-180262726	NR_027183
27	lnc-MGAT1-2	chr5:180253864-180254267	XLOC_005110
28	lnc-MGAT1-2	chr5:180257708-180258941	XLOC_005110
29	lnc-BTNL8-3	chr5:180257957-180258229	NR_045679
30	lnc-ZFP62-2	chr5:180278381-180278493	NONHSAT105847
31	lnc-MGAT1-2	chr5:180255984-180257403	XLOC_005110
32	lnc-MGAT1-2	chr5:180257708-180258946	XLOC_005110
33	lnc-BTNL8-3	chr5:180261312-180262725	NONHSAT105842
34	lnc-MGAT1-2	chr5:180257072-180257406	XLOC_005110
35	lnc-BTNL3-3	chr5:180336573-180336697	NONHSAT105850
36	lnc-ZFP62-2	chr5:180287528-180287684	NONHSAT105847
37	lnc-MGAT1-2	chr5:180255314-180255379	XLOC_005110
38	lnc-BTNL3-3	chr5:180374512-180375353	NONHSAT105850
39	lnc-BTNL8-3	chr5:180258039-180258229	ENSG00000245060
40	lnc-BTNL8-3	chr5:180258759-180258941	ENSG00000245060
41	lnc-BTNL8-3	chr5:180258736-180258806	ENSG00000245060
42	lnc-ZFP62-2	chr5:180278381-180278493	NONHSAT105846
43	lnc-ZFP62-2	chr5:180274611-180275082	NONHSAT105847
44	lnc-MGAT1-2	chr5:180253880-180254267	XLOC_005110
45	lnc-MGAT1-2	chr5:180258725-180258806	XLOC_005110
46	lnc-MGAT1-2	chr5:180257608-180258229	XLOC_005110
47	lnc-BTNL8-3	chr5:180257957-180258229	NR_027183
48	lnc-BTNL8-1	chr5:180296862-180296969	XLOC_004685
49	lnc-MGAT1-2	chr5:180253880-180254267	XLOC_005110
50	lnc-MGAT1-2	chr5:180257708-180258941	XLOC_005110

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
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
ENSG00000123358	chromatin interactions
ENSG00000243664	chromatin interactions
ENSG00000124201	chromatin interactions
ENSG00000183718	chromatin interactions
ENSG00000245060	chromatin interactions
ENSG00000168903	chromatin interactions
ENSG00000146054	chromatin interactions
ENSG00000209042	chromatin interactions
ENSG00000182613	chromatin interactions
ENSG00000131446	chromatin interactions
ENSG00000199004	chromatin interactions
ENSG00000225721	chromatin interactions
ENSG00000170421	chromatin interactions
ENSG00000260841	chromatin interactions
ENSG00000264549	chromatin interactions
ENSG00000141522	chromatin interactions
ENSG00000262413	chromatin interactions
ENSG00000165810	chromatin interactions
ENSG00000146063	chromatin interactions
ENSG00000206686	chromatin interactions
ENSG00000177410	chromatin interactions
ENSG00000204628	chromatin interactions
ENSG00000248514	chromatin interactions
ENSG00000196670	chromatin interactions
ENSG00000264732	chromatin interactions
ENSG00000113303	chromatin interactions
ENSG00000248275	chromatin interactions
ENSG00000272296	chromatin interactions
ENSG00000222852	chromatin interactions
ENSG00000142937	chromatin interactions
ENSG00000250900	chromatin interactions
ENSG00000214295	chromatin interactions
WTAP	miRNA target sites
DMXL1	miRNA target sites
RNF141	miRNA target sites
RNF144A	miRNA target sites
CDC34	miRNA target sites
ASCC3	miRNA target sites
SOCS5	miRNA target sites
CCNJ	miRNA target sites
CLINT1	miRNA target sites
TGFB2	miRNA target sites
CCDC76	miRNA target sites
BTG2	miRNA target sites
ZNF785	miRNA target sites
SOS2	miRNA target sites
HEBP2	miRNA target sites
NIN	miRNA target sites
SHOC2	miRNA target sites
IL1B	miRNA target sites
CHD9	miRNA target sites

Extended variants
information (count: 6522 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:6522 , 50 per page) page: 1 2 3 4 5 6 7 ... 131

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565040769	chr5:180251733-180251734	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs139901520	chr5:180251735-180251736	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs545770364	chr5:180251762-180251763	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs114904074	chr5:180251818-180251819	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs75858778	chr5:180251882-180251883	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs79096618	chr5:180251883-180251884	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs562309318	chr5:180251909-180251910	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs142369930	chr5:180251948-180251949	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs79878612	chr5:180251954-180251955	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs571155863	chr5:180251986-180251987	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs538668914	chr5:180252003-180252004	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs151268008	chr5:180252005-180252006	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs60073078	chr5:180252030-180252031	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs376191304	chr5:180252031-180252032	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs140469594	chr5:180252114-180252115	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs537963723	chr5:180252121-180252122	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs74485070	chr5:180252150-180252151	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs574585788	chr5:180252160-180252161	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs533738892	chr5:180252165-180252166	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs554082492	chr5:180252172-180252173	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs576710024	chr5:180252205-180252206	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs373792380	chr5:180252241-180252242	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs545658112	chr5:180252255-180252256	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs75409148	chr5:180252309-180252310	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs368915280	chr5:180252310-180252311	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs149852601	chr5:180252343-180252344	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs77367689	chr5:180252348-180252349	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs575980439	chr5:180252351-180252352	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs186923152	chr5:180252353-180252354	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs562030478	chr5:180252385-180252386	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs58963783	chr5:180252406-180252407	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs76222444	chr5:180252433-180252434	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs564807591	chr5:180252446-180252447	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs190285955	chr5:180252481-180252482	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs116418701	chr5:180252484-180252485	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs550470016	chr5:180252485-180252486	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs150399434	chr5:180252497-180252498	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs182452031	chr5:180252577-180252578	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs147656298	chr5:180252578-180252579	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs377038647	chr5:180252611-180252612	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs568060677	chr5:180252616-180252617	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs73815145	chr5:180252651-180252652	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs73353018	chr5:180252704-180252705	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs577655992	chr5:180252727-180252728	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs186772729	chr5:180252745-180252746	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs79565301	chr5:180252773-180252774	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs555997503	chr5:180252804-180252805	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs189773824	chr5:180252992-180252993	Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs79514266	chr5:180253016-180253017	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs555855919	chr5:180253038-180253039	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 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
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
Schizophrenia	23813976	CNVD

Chromatin state (count:2812 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:180238800-180253200	Weak transcription	A549	lung
2	chr5:180241600-180251800	Weak transcription	Brain Anterior Caudate	brain
3	chr5:180243000-180251800	Weak transcription	Brain Hippocampus Middle	brain
4	chr5:180244400-180251800	Weak transcription	Stomach Mucosa	stomach
5	chr5:180244400-180252800	Weak transcription	NHLF	lung
6	chr5:180244600-180256800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr5:180244600-180256800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr5:180245000-180256800	Weak transcription	Spleen	Spleen
9	chr5:180245400-180252800	Weak transcription	Liver	Liver
10	chr5:180245600-180251800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr5:180245800-180252200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr5:180246000-180251800	Weak transcription	HepG2	liver
13	chr5:180246200-180252600	Weak transcription	Colonic Mucosa	Colon
14	chr5:180246200-180252600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr5:180247600-180251800	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr5:180247600-180252000	Weak transcription	Brain Angular Gyrus	brain
17	chr5:180247600-180253000	Weak transcription	Fetal Intestine Large	intestine
18	chr5:180248000-180251800	Weak transcription	Brain Substantia Nigra	brain
19	chr5:180248000-180251800	Weak transcription	Small Intestine	intestine
20	chr5:180248000-180252200	Weak transcription	Placenta	Placenta
21	chr5:180248000-180256600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr5:180248200-180252800	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr5:180248200-180256600	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr5:180248600-180256000	Weak transcription	Primary B cells from cord blood	blood
25	chr5:180248600-180256000	Weak transcription	Primary hematopoietic stem cells	blood
26	chr5:180248800-180252000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr5:180248800-180256200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr5:180248800-180256800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr5:180249000-180256400	Weak transcription	Primary B cells from peripheral blood	blood
30	chr5:180249000-180257600	Weak transcription	Ovary	ovary
31	chr5:180249200-180256600	Weak transcription	GM12878-XiMat	blood
32	chr5:180249600-180252600	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr5:180249800-180252600	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr5:180250400-180252000	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr5:180250400-180252000	Enhancers	Thymus	Thymus
36	chr5:180250400-180252800	Enhancers	Fetal Thymus	thymus
37	chr5:180250400-180253400	Enhancers	Right Atrium	heart
38	chr5:180250400-180253400	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr5:180250400-180253600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr5:180250400-180253600	Enhancers	Fetal Muscle Leg	muscle
41	chr5:180250400-180253800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr5:180250400-180253800	Enhancers	Adipose Nuclei	Adipose
43	chr5:180250400-180253800	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr5:180250400-180254400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr5:180250400-180254600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr5:180250600-180252000	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr5:180250600-180252000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr5:180250600-180252200	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr5:180250600-180252400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr5:180250600-180252600	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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