Variant report

Variant	nsv908217
Chromosome Location	chr17:37863708-37879588
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr17:37866845-37867075	K562	blood:	n/a	n/a
2	CCNT2	chr17:37879431-37880102	K562	blood:	n/a	n/a
3	CEBPB	chr17:37873031-37873522	ECC-1	luminal epithelium:	n/a	n/a
4	CTCF	chr17:37875060-37875210	GM12871	blood:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
5	CTCF	chr17:37875040-37875190	HCPEpiC	choroid plexus:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
6	CTCF	chr17:37875060-37875210	Hela-S3	cervix:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
7	CTCF	chr17:37875000-37875150	AoAF	blood vessel:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
8	CTCF	chr17:37874956-37875289	IMR90	lung:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
9	CTCF	chr17:37875080-37875230	HEEpiC	esophagus:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
10	CTCF	chr17:37875060-37875210	HCPEpiC	choroid plexus:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
11	CTCF	chr17:37875000-37875150	HCM	heart:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
12	CTCF	chr17:37875080-37875230	GM12866	blood:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
13	CTCF	chr17:37875060-37875210	HPAF	blood vessel:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
14	CTCF	chr17:37872080-37872230	NHEK	skin:	n/a	n/a
15	CTCF	chr17:37875080-37875230	AoAF	blood vessel:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
16	CTCF	chr17:37874980-37875130	GM12874	blood:	n/a	n/a
17	CTCF	chr17:37867503-37867557	GM20000	blood:	n/a	n/a
18	CTCF	chr17:37875040-37875190	GM12864	blood:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
19	CTCF	chr17:37875020-37875170	MCF-7	breast:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
20	CTCF	chr17:37875060-37875210	SAEC	small airway:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
21	CTCF	chr17:37875060-37875210	AG10803	skin:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
22	CTCF	chr17:37875000-37875150	NHEK	skin:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
23	CTCF	chr17:37875020-37875170	HEK293	kidney:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
24	CTCF	chr17:37875057-37875200	GM13977	blood:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
25	CTCF	chr17:37875006-37875253	HUVEC	blood vessel:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
26	CTCF	chr17:37875057-37875221	GM10248	blood:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
27	CTCF	chr17:37875071-37875174	LNCaP	prostate:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
28	CTCF	chr17:37875040-37875190	HBMEC	blood vessel:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
29	CTCF	chr17:37875040-37875190	HPF	lung:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
30	CTCF	chr17:37875032-37875213	A549	lung:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
31	CTCF	chr17:37872120-37872270	NHEK	skin:	n/a	n/a
32	CTCF	chr17:37875008-37875222	K562	blood:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
33	CTCF	chr17:37866060-37866210	WERI-Rb-1	eye:	n/a	n/a
34	CTCF	chr17:37874874-37875429	HCT-116	colon:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
35	CTCF	chr17:37875020-37875170	K562	blood:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
36	CTCF	chr17:37874848-37875304	HepG2	liver:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
37	CTCF	chr17:37875040-37875190	MCF-7	breast:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
38	CTCF	chr17:37875080-37875230	HRE	kidney:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
39	CTCF	chr17:37875040-37875190	BE2_C	brain:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
40	CTCF	chr17:37875021-37875238	HepG2	liver:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
41	CTCF	chr17:37875100-37875250	HVMF	connective:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
42	CTCF	chr17:37875060-37875210	AG09319	gingival:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
43	CTCF	chr17:37875080-37875230	AG09309	skin:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
44	CTCF	chr17:37875060-37875210	WERI-Rb-1	eye:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
45	CTCF	chr17:37875011-37875231	MCF-7	breast:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
46	CTCF	chr17:37875060-37875210	HRPEpiC	eye:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
47	CTCF	chr17:37874973-37875282	GM12878	blood:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
48	CTCF	chr17:37875010-37875215	K562	blood:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
49	CTCF	chr17:37875024-37875210	Gliobla	brain:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138
50	CTCF	chr17:37874985-37875192	T-47D	breast:	n/a	chr17:37875128-37875137 chr17:37875123-37875139 chr17:37875122-37875140 chr17:37875117-37875138

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:37875709-37875759	RPTEC	kidney:	n/a
2	chr17:37875709-37875759	GM12891	blood:	n/a
3	chr17:37875709-37875759	T-47D	breast:	n/a
4	chr17:37875709-37875759	IMR90	lung:	fetal
5	chr17:37879267-37879317	HL-60	blood:	n/a
6	chr17:37875709-37875759	HAEpiC	amniotic membrane:	n/a
7	chr17:37879267-37879317	MCF10A-Er-Src	breast:	n/a
8	chr17:37875709-37875759	SKMC	muscle:	n/a
9	chr17:37875709-37875759	HCM	heart:	n/a
10	chr17:37879267-37879317	T-47D	breast:	n/a
11	chr17:37879267-37879317	HMEC	breast:	n/a
12	chr17:37875709-37875759	NHDF-neo	bronchial:	n/a
13	chr17:37879267-37879317	LNCaP	prostate:	n/a
14	chr17:37879267-37879317	AG10803	skin:	n/a
15	chr17:37875709-37875759	HRPEpiC	eye:	n/a
16	chr17:37879267-37879317	HPAEpiC	pulmonary alveolar:	n/a
17	chr17:37879267-37879317	HNPCEpiC	eye:	n/a
18	chr17:37875709-37875759	NT2-D1	testis:	n/a
19	chr17:37875709-37875759	HNPCEpiC	eye:	n/a
20	chr17:37875709-37875759	MCF10A-Er-Src	breast:	n/a
21	chr17:37875709-37875759	HEEpiC	esophagus:	n/a
22	chr17:37879267-37879317	HRCEpiC	kidney:	n/a
23	chr17:37879267-37879317	HIPEpiC	eye:	n/a
24	chr17:37879267-37879317	U87	brain:	n/a
25	chr17:37875709-37875759	HPAEpiC	pulmonary alveolar:	n/a
26	chr17:37879267-37879317	GM06990	blood:	n/a
27	chr17:37879267-37879317	HepG2	liver:	n/a
28	chr17:37879267-37879317	AG04450	lung:	fetal
29	chr17:37875709-37875759	HIPEpiC	eye:	n/a
30	chr17:37875709-37875759	MCF-7	breast:	n/a
31	chr17:37875709-37875759	HMEC	breast:	n/a
32	chr17:37879267-37879317	BJ	skin:	n/a
33	chr17:37875709-37875759	A549	lung:	n/a
34	chr17:37875709-37875759	AoSMC	blood vessel:	n/a
35	chr17:37879267-37879317	Hepatocyte	liver:	n/a
36	chr17:37875709-37875759	SK-N-MC	brain:	n/a
37	chr17:37875709-37875759	SAEC	small airway:	n/a
38	chr17:37879267-37879317	HEEpiC	esophagus:	n/a
39	chr17:37879267-37879317	ovcar-3	ovarian:	n/a
40	chr17:37879267-37879317	Caco-2	colon:	n/a
41	chr17:37875709-37875759	HepG2	liver:	n/a
42	chr17:37879267-37879317	GM12878	blood:	n/a
43	chr17:37879267-37879317	HUVEC	blood vessel:	n/a
44	chr17:37875709-37875759	AG09309	skin:	n/a
45	chr17:37879267-37879317	AoSMC	blood vessel:	n/a
46	chr17:37879267-37879317	GM19239	blood:	n/a
47	chr17:37879267-37879317	SK-N-MC	brain:	n/a
48	chr17:37875709-37875759	HRCEpiC	kidney:	n/a
49	chr17:37875709-37875759	U87	brain:	n/a
50	chr17:37875709-37875759	Hepatocyte	liver:	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:37852050..37854882-chr17:37862447..37865325,2	K562	blood:
2	chr17:37872030..37873860-chr17:37878139..37880037,3	K562	blood:
3	chr17:37861008..37863729-chr17:37884662..37888113,4	MCF-7	breast:
4	chr17:37856670..37858872-chr17:37874487..37877508,3	MCF-7	breast:
5	chr17:37875103..37877735-chr17:37878952..37881487,4	K562	blood:
6	chr17:37860257..37864274-chr17:37871854..37875164,5	MCF-7	breast:
7	chr17:37861753..37864572-chr17:37866139..37867731,2	MCF-7	breast:
8	chr17:37874861..37876535-chr17:37884600..37886557,2	K562	blood:
9	chr17:37760982..37763537-chr17:37878611..37880800,2	K562	blood:
10	chr17:37861753..37864572-chr17:37866139..37867731,2	MCF-7	breast:
11	chr17:37843888..37846797-chr17:37874927..37876468,2	MCF-7	breast:
12	chr17:37861723..37863621-chr17:37878570..37880965,2	MCF-7	breast:
13	chr17:37873495..37876430-chr17:37881806..37884578,2	K562	blood:
14	chr17:37860257..37864274-chr17:37871854..37875164,5	MCF-7	breast:
15	chr17:37858020..37860192-chr17:37861876..37864299,2	K562	blood:
16	chr17:37867857..37869588-chr17:37870435..37872270,2	K562	blood:
17	chr17:37870758..37873083-chr17:37874555..37877273,2	K562	blood:
18	chr17:37878383..37881370-chr17:37906332..37908876,2	K562	blood:
19	chr17:37854757..37859429-chr17:37870382..37874180,6	K562	blood:
20	chr17:37869068..37872163-chr17:37881073..37883703,3	K562	blood:
21	chr17:37854371..37858847-chr17:37859204..37863861,12	MCF-7	breast:
22	chr17:37815487..37818092-chr17:37864402..37866827,2	MCF-7	breast:
23	chr17:37842892..37845868-chr17:37868766..37870557,2	K562	blood:
24	chr17:37775843..37778792-chr17:37877300..37880050,2	K562	blood:
25	chr17:37875233..37878023-chr17:37910337..37912992,2	MCF-7	breast:
26	chr17:37864069..37866883-chr17:37884219..37886655,3	MCF-7	breast:
27	chr17:37858390..37860926-chr17:37875652..37877494,2	K562	blood:
28	chr17:37867857..37869588-chr17:37870435..37872270,2	K562	blood:
29	chr17:37871866..37874609-chr17:37884182..37887614,4	MCF-7	breast:
30	chr17:37872892..37874995-chr17:37881128..37883306,2	K562	blood:
31	chr17:37807008..37809974-chr17:37878237..37881849,3	K562	blood:
32	chr17:37803714..37809656-chr17:37878369..37881849,5	K562	blood:
33	chr17:37871119..37873027-chr17:37873590..37876087,2	K562	blood:
34	chr17:37843958..37845642-chr17:37874066..37877258,3	MCF-7	breast:
35	chr17:37857359..37860774-chr17:37877797..37881019,3	MCF-7	breast:
36	chr17:37843168..37845541-chr17:37863729..37866216,2	MCF-7	breast:
37	chr17:37860636..37865251-chr17:37890921..37895460,5	MCF-7	breast:
38	chr17:37862394..37865054-chr17:37882153..37884156,2	K562	blood:
39	chr17:37821349..37827255-chr17:37878140..37881623,7	K562	blood:
40	chr17:37870160..37872163-chr17:37881073..37883081,3	K562	blood:
41	chr17:37875103..37877735-chr17:37878952..37881487,4	K562	blood:
42	chr17:37862305..37864519-chr17:37893058..37894844,2	MCF-7	breast:
43	chr17:37871119..37873027-chr17:37873590..37876087,2	K562	blood:
44	chr17:37844202..37845987-chr17:37862738..37864585,2	K562	blood:
45	chr17:37778246..37778910-chr17:37874656..37875550,3	MCF-7	breast:
46	chr17:37843552..37845628-chr17:37864708..37866273,2	K562	blood:

Variant related genes	Relation type
MIR4728	TF binding region
ERBB2	TF binding region
MIR4728	CpG island
ERBB2	CpG island
ENSG00000161395	chromatin interactions
ENSG00000141741	chromatin interactions
ENSG00000173991	chromatin interactions
ENSG00000141744	chromatin interactions
ENSG00000265178	chromatin interactions
ENSG00000141738	chromatin interactions
ENSG00000214546	chromatin interactions
ENSG00000131748	chromatin interactions
ENSG00000141736	chromatin interactions

Extended variants
information (count: 675 )
Associated
traits (count: 154 )

Variant overlapped rSNPs/rCNVs (count:675 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4252612	chr17:37863708-37863709	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs142177886	chr17:37863765-37863766	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs34588721	chr17:37863792-37863793	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs574262869	chr17:37863833-37863834	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs538391075	chr17:37863926-37863927	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs556479969	chr17:37863927-37863928	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs578155528	chr17:37863960-37863961	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs184501114	chr17:37863966-37863967	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs189257831	chr17:37863969-37863970	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs572840176	chr17:37863973-37863974	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs201388702	chr17:37864041-37864042	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs540240104	chr17:37864080-37864081	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs373335389	chr17:37864114-37864115	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs181798868	chr17:37864118-37864119	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs561969231	chr17:37864176-37864177	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs146715815	chr17:37864246-37864247	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs186486287	chr17:37864247-37864248	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs189056840	chr17:37864254-37864255	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs372366005	chr17:37864257-37864258	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs562526875	chr17:37864301-37864302	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs532987868	chr17:37864321-37864322	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs551434294	chr17:37864344-37864345	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs566640344	chr17:37864351-37864352	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs12603325	chr17:37864367-37864368	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs533893700	chr17:37864369-37864370	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs548970738	chr17:37864415-37864416	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs376608456	chr17:37864428-37864429	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs567700684	chr17:37864430-37864431	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs538149948	chr17:37864434-37864435	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs180796845	chr17:37864438-37864439	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs571718342	chr17:37864451-37864452	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs539248157	chr17:37864512-37864513	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs186083828	chr17:37864527-37864528	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs202029445	chr17:37864550-37864551	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs368111130	chr17:37864553-37864554	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs61737968	chr17:37864584-37864585	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs191376350	chr17:37864597-37864598	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs376524324	chr17:37864598-37864599	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs147785188	chr17:37864606-37864607	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs369499945	chr17:37864621-37864622	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs539140755	chr17:37864650-37864651	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs576471733	chr17:37864660-37864661	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs372811772	chr17:37864688-37864689	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs200102353	chr17:37864693-37864694	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs370676964	chr17:37864699-37864700	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs141135746	chr17:37864712-37864713	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs370959592	chr17:37864713-37864714	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs4252613	chr17:37864729-37864730	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs373824622	chr17:37864731-37864732	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs200208742	chr17:37864758-37864759	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:154)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ewing''s sarcoma	21437220	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Melanoma	18172304	CNVD
Moyamoya disease	22323933	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ovarian cancer	21781307	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell lymphomas	19863542	CNVD
Cancer	16751803	CNVD
Chordoma	21602918	CNVD
Neurofibromatosis	20686819	CNVD
Peripheral nerve sheath tumors	20686819	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	17897457	CNVD
Neuroblastoma	17327916	CNVD
Breast cancer	21264507	CNVD
Endometrial cancer	22040021	CNVD
Neuroblastoma	21484798	CNVD
Breast cancer	22028636	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute myeloid leukemia	20724749	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17157792	CNVD
Bladder cancer	19088036	CNVD
Gastric cancer	17167181	CNVD
Breast cancer	19287154	CNVD
Leukemia	20874852	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	17533364	CNVD
Human rectal carcinomas	16397240	CNVD
Meningioma	19431122	CNVD
Neurocytoma	17123091	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastric cancer	24379144	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Gastric cancer	18160780	CNVD
Hepatocellular carcinoma	16785998	CNVD
Breast cancer	17850661	CNVD
Primary lung adenocarcinoma	16799635	CNVD
HIV/AIDS	18848619	CNVD
Rheumatoid arthritis	19220326	CNVD
Rheumatoid arthritis	18848619	CNVD
Systemic lupus erythematosus	19220326	CNVD
Systemic lupus erythematosus	18848619	CNVD
Type 1 diabetes	19220326	CNVD
HIV/AIDS	17330138	CNVD
Basal cell lymphoma	17053054	CNVD
Autism	19955444	CNVD
Schizophrenia	19955444	CNVD
Acute monocytic leukemia	16498392	CNVD
Breast cancer	20409316	CNVD
Myelodysplastic syndrome	18663149	CNVD
Breast cancer	17457667	CNVD
Breast cancer	16951389	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16620391	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22048815	CNVD
Breast cancer	17603634	CNVD
Follicular lymphoma	20505157	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	20953835	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Sezary syndrome	18413736	CNVD
Cancer	20164920	CNVD
Urothelial carcinoma	21177765	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Disease	22962312	CNVD
Mental retardation	20152051	CNVD
Mental retardation	19951919	CNVD
Mental retardation	22817714	CNVD
Mental retardation	21956041	CNVD
Brain cancer	19584924	CNVD
Glioblastoma multiforme	22286061	CNVD
Schizophrenia	21399695	CNVD
Non-syndromic sensorineural hearing loss	19165922	CNVD
Prader-willi syndrome	20588305	CNVD
17q21.31 microdeletion syndrome	16940994	CNVD
Non-syndromic sensorineural hearing loss	21084979	CNVD
17q21.31 microdeletion syndrome	22283845	CNVD
Intellectual disability	22194194	CNVD
17q21.31 microdeletion syndrome	20606400	CNVD
17q21.31 microdeletion syndrome	18628315	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
TAR Syndrome	17847015	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	18702822	CNVD
Breast cancer	17938205	CNVD
Breast cancer	20943603	CNVD
Pheochromocytoma	18310300	CNVD
Gastric adenocarcinoma	22014070	CNVD
Breast cancer	20217132	CNVD
Ovarian cancer	20217132	CNVD
Breast cancer	17260090	CNVD
Breast cancer	21633010	CNVD
Breast cancer	18086299	CNVD
Breast cancer	22042366	CNVD
Salivary gland tumor	22240798	CNVD
Non-small cell lung cancer	17317677	CNVD
Cancer	20697084	CNVD
Lung cancer	17626639	CNVD
Breast cancer	18335499	CNVD
Cervical cancer	17311676	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Central neurocytomas	17123091	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	19019769	CNVD
Breast cancer	19767729	CNVD
Invasive breast cancer	19060846	CNVD
Breast cancer	19123950	CNVD
Neuroblastic tumor	20581805	CNVD
Ovarian cancer	18182111	CNVD

Chromatin state (count:479 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37857000-37872000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr17:37858000-37885200	Weak transcription	Fetal Brain Male	brain
3	chr17:37858000-37885600	Weak transcription	Hela-S3	cervix
4	chr17:37858200-37864000	Enhancers	Liver	Liver
5	chr17:37858200-37864400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr17:37858200-37882600	Weak transcription	NHDF-Ad	bronchial
7	chr17:37858400-37879600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr17:37859000-37864000	Genic enhancers	Fetal Muscle Leg	muscle
9	chr17:37859400-37881000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr17:37859800-37864800	Weak transcription	Fetal Brain Female	brain
11	chr17:37861200-37863800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr17:37861200-37864600	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr17:37861400-37883600	Weak transcription	Brain Substantia Nigra	brain
14	chr17:37861600-37864600	Weak transcription	Colon Smooth Muscle	Colon
15	chr17:37862000-37865400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr17:37862200-37866600	Enhancers	Primary T cells fromperipheralblood	blood
17	chr17:37862200-37877000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
18	chr17:37862200-37885200	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr17:37862400-37876800	Strong transcription	HepG2	liver
20	chr17:37862400-37877600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr17:37862400-37878800	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr17:37862400-37885400	Strong transcription	H9 Cell Line	embryonic stem cell
23	chr17:37862400-37885600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr17:37862400-37885600	Strong transcription	Fetal Stomach	stomach
25	chr17:37862400-37885800	Weak transcription	Right Atrium	heart
26	chr17:37862600-37863800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr17:37862600-37864000	Genic enhancers	Skeletal Muscle Female	skeletal muscle
28	chr17:37862600-37866000	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr17:37862600-37866200	Genic enhancers	Placenta	Placenta
30	chr17:37862600-37866800	Genic enhancers	Fetal Muscle Trunk	muscle
31	chr17:37862600-37871400	Weak transcription	HSMM	muscle
32	chr17:37862600-37871600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr17:37862600-37885600	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr17:37862800-37863800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr17:37862800-37863800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
36	chr17:37862800-37863800	Enhancers	HMEC	breast
37	chr17:37862800-37864000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr17:37862800-37864200	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr17:37862800-37864400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr17:37862800-37864600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr17:37862800-37865400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr17:37862800-37866600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr17:37862800-37872000	Weak transcription	NH-A	brain
44	chr17:37862800-37878800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr17:37862800-37883200	Weak transcription	Small Intestine	intestine
46	chr17:37862800-37885600	Strong transcription	Fetal Intestine Large	intestine
47	chr17:37863000-37864000	Enhancers	Primary B cells from cord blood	blood
48	chr17:37863000-37864000	Enhancers	Primary B cells from peripheral blood	blood
49	chr17:37863000-37864000	Enhancers	Primary T cells from cord blood	blood
50	chr17:37863000-37864000	Enhancers	Primary T helper naive cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links