Variant report

Variant	nsv597813
Chromosome Location	chr5:35855264-35864590
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	ATF1	chr5:35858080-35858107	K562	blood:	n/a	n/a
2	ATF2	chr5:35856752-35857428	GM12878	blood:	n/a	n/a
3	ATF2	chr5:35856797-35857288	GM12878	blood:	n/a	n/a
4	BATF	chr5:35857834-35858093	GM12878	blood:	n/a	n/a
5	BATF	chr5:35856984-35857270	GM12878	blood:	n/a	chr5:35857163-35857173
6	BATF	chr5:35856698-35857333	GM12878	blood:	n/a	chr5:35857163-35857173
7	BCL11A	chr5:35856838-35857239	GM12878	blood:	n/a	chr5:35857162-35857171
8	BCL11A	chr5:35857923-35858185	GM12878	blood:	n/a	chr5:35858027-35858036
9	BCL3	chr5:35857831-35858195	GM12878	blood:	n/a	chr5:35858027-35858036
10	BCLAF1	chr5:35863329-35863608	GM12878	blood:	n/a	n/a
11	CEBPB	chr5:35857908-35858331	IMR90	lung:	n/a	n/a
12	CEBPB	chr5:35861728-35862124	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr5:35857841-35858403	Hela-S3	cervix:	n/a	n/a
14	CHD2	chr5:35857872-35858342	Hela-S3	cervix:	n/a	n/a
15	CTCF	chr5:35859560-35859710	AG04449	skin:	n/a	n/a
16	CTCF	chr5:35859460-35859610	AG10803	skin:	n/a	n/a
17	CTCF	chr5:35856899-35856956	Lung_OC	lung:	n/a	n/a
18	CTCF	chr5:35856892-35856894	Lung_OC	lung:	n/a	n/a
19	CTCF	chr5:35862080-35862230	AG04450	lung:	n/a	n/a
20	CUX1	chr5:35857022-35857474	GM12878	blood:	n/a	n/a
21	CUX1	chr5:35863196-35863432	GM12878	blood:	n/a	chr5:35863333-35863349 chr5:35863318-35863327
22	CUX1	chr5:35859174-35859230	GM12878	blood:	n/a	n/a
23	E2F4	chr5:35857944-35858293	MCF10A-Er-Src	breast:	n/a	n/a
24	EBF1	chr5:35863451-35863485	GM12878	blood:	n/a	n/a
25	EBF1	chr5:35855278-35855566	GM12878	blood:	n/a	chr5:35855391-35855402
26	EBF1	chr5:35858000-35858193	GM12878	blood:	n/a	n/a
27	EBF1	chr5:35862270-35862529	GM12878	blood:	n/a	n/a
28	EBF1	chr5:35863323-35863629	GM12878	blood:	n/a	n/a
29	EBF1	chr5:35856879-35857473	GM12878	blood:	n/a	n/a
30	EP300	chr5:35857845-35858309	SK-N-SH_RA	brain:	n/a	chr5:35858133-35858142 chr5:35858028-35858037
31	EP300	chr5:35864109-35864272	GM12878	blood:	n/a	n/a
32	EP300	chr5:35857714-35858442	SK-N-SH	brain:	n/a	chr5:35858377-35858385 chr5:35858133-35858142 chr5:35858028-35858037
33	EP300	chr5:35857965-35858181	GM12878	blood:	n/a	chr5:35858133-35858142 chr5:35858028-35858037
34	EP300	chr5:35857695-35858545	SK-N-SH	brain:	n/a	chr5:35858377-35858385 chr5:35858133-35858142 chr5:35858028-35858037
35	EP300	chr5:35857859-35858431	Hela-S3	cervix:	n/a	chr5:35858377-35858385 chr5:35858133-35858142 chr5:35858028-35858037
36	EP300	chr5:35856885-35857358	GM12878	blood:	n/a	chr5:35856895-35856904
37	EP300	chr5:35863294-35863638	GM12878	blood:	n/a	n/a
38	EP300	chr5:35857863-35858254	SK-N-SH_RA	brain:	n/a	chr5:35858133-35858142 chr5:35858028-35858037
39	EP300	chr5:35862443-35862509	GM12878	blood:	n/a	n/a
40	FOS	chr5:35857689-35858373	MCF10A-Er-Src	breast:	n/a	chr5:35858028-35858035 chr5:35858131-35858142 chr5:35858047-35858055 chr5:35858048-35858055 chr5:35858027-35858037 chr5:35858133-35858142 chr5:35858028-35858036 chr5:35858133-35858140 chr5:35858028-35858036
41	FOS	chr5:35857851-35858302	Hela-S3	cervix:	n/a	chr5:35858028-35858035 chr5:35858131-35858142 chr5:35858047-35858055 chr5:35858048-35858055 chr5:35858027-35858037 chr5:35858133-35858142 chr5:35858028-35858036 chr5:35858133-35858140 chr5:35858028-35858036
42	FOS	chr5:35856792-35858387	MCF10A-Er-Src	breast:	n/a	chr5:35858028-35858035 chr5:35857163-35857170 chr5:35858131-35858142 chr5:35858047-35858055 chr5:35858048-35858055 chr5:35858027-35858037 chr5:35858133-35858142 chr5:35858028-35858036 chr5:35858133-35858140 chr5:35858028-35858036
43	FOS	chr5:35861820-35862275	Hela-S3	cervix:	n/a	n/a
44	FOS	chr5:35856759-35857350	MCF10A-Er-Src	breast:	n/a	chr5:35857163-35857170
45	FOS	chr5:35857844-35858361	MCF10A-Er-Src	breast:	n/a	chr5:35858028-35858035 chr5:35858131-35858142 chr5:35858047-35858055 chr5:35858048-35858055 chr5:35858027-35858037 chr5:35858133-35858142 chr5:35858028-35858036 chr5:35858133-35858140 chr5:35858028-35858036
46	FOS	chr5:35857845-35858313	MCF10A-Er-Src	breast:	n/a	chr5:35858028-35858035 chr5:35858131-35858142 chr5:35858047-35858055 chr5:35858048-35858055 chr5:35858027-35858037 chr5:35858133-35858142 chr5:35858028-35858036 chr5:35858133-35858140 chr5:35858028-35858036
47	FOS	chr5:35857097-35857320	MCF10A-Er-Src	breast:	n/a	chr5:35857163-35857170
48	FOS	chr5:35856959-35857319	MCF10A-Er-Src	breast:	n/a	chr5:35857163-35857170
49	FOS	chr5:35856738-35858422	HUVEC	blood vessel:	n/a	chr5:35858028-35858035 chr5:35857163-35857170 chr5:35858131-35858142 chr5:35858047-35858055 chr5:35858048-35858055 chr5:35858027-35858037 chr5:35858133-35858142 chr5:35858028-35858036 chr5:35858133-35858140 chr5:35858028-35858036
50	FOSL2	chr5:35857863-35858229	MCF-7	breast:	n/a	chr5:35858028-35858035 chr5:35858047-35858055 chr5:35858048-35858055 chr5:35858027-35858037 chr5:35858133-35858142 chr5:35858028-35858036 chr5:35858133-35858140 chr5:35858028-35858036

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:35857130-35857180	U87	brain:	n/a
2	chr5:35857130-35857180	U87	brain:	n/a
3	chr5:35856424-35856474	HepG2	liver:	n/a
4	chr5:35856424-35856474	HRE	kidney:	n/a
5	chr5:35856424-35856474	SK-N-MC	brain:	n/a
6	chr5:35860337-35860387	PANC-1	pancreas:	n/a
7	chr5:35857130-35857180	GM12878	blood:	n/a
8	chr5:35856424-35856474	RPTEC	kidney:	n/a
9	chr5:35856424-35856474	PrEC	prostate:	n/a
10	chr5:35860337-35860387	AG04449	skin:	fetal
11	chr5:35860337-35860387	HCF	heart:	n/a
12	chr5:35856424-35856474	NHDF-neo	bronchial:	n/a
13	chr5:35857130-35857180	HUVEC	blood vessel:	n/a
14	chr5:35856424-35856474	Hepatocyte	liver:	n/a
15	chr5:35860337-35860387	LNCaP	prostate:	n/a
16	chr5:35857130-35857180	AG09309	skin:	n/a
17	chr5:35857130-35857180	HCF	heart:	n/a
18	chr5:35857130-35857180	IMR90	lung:	fetal
19	chr5:35860337-35860387	ProgFib	skin:	n/a
20	chr5:35856424-35856474	HPAEpiC	pulmonary alveolar:	n/a
21	chr5:35856424-35856474	GM12891	blood:	n/a
22	chr5:35856424-35856474	BJ	skin:	n/a
23	chr5:35857130-35857180	H1-hESC	embryonic stem cell:	embryo
24	chr5:35857130-35857180	GM12891	blood:	n/a
25	chr5:35860337-35860387	U87	brain:	n/a
26	chr5:35857130-35857180	AG04449	skin:	fetal
27	chr5:35856424-35856474	CMK	blood:	n/a
28	chr5:35856424-35856474	U87	brain:	n/a
29	chr5:35856424-35856474	NHBE	bronchial:	n/a
30	chr5:35860337-35860387	HCM	heart:	n/a
31	chr5:35860337-35860387	BE2_C	brain:	n/a
32	chr5:35857130-35857180	BE2_C	brain:	n/a
33	chr5:35857130-35857180	HepG2	liver:	n/a
34	chr5:35856424-35856474	LNCaP	prostate:	n/a
35	chr5:35860337-35860387	SK-N-MC	brain:	n/a
36	chr5:35856424-35856474	GM12892	blood:	n/a
37	chr5:35860337-35860387	GM12891	blood:	n/a
38	chr5:35856424-35856474	HIPEpiC	eye:	n/a
39	chr5:35856424-35856474	HCF	heart:	n/a
40	chr5:35856424-35856474	MCF-7	breast:	n/a
41	chr5:35857130-35857180	HRE	kidney:	n/a
42	chr5:35857130-35857180	T-47D	breast:	n/a
43	chr5:35856424-35856474	AG09319	gingival:	n/a
44	chr5:35856424-35856474	HRCEpiC	kidney:	n/a
45	chr5:35856424-35856474	HCT-116	colon:	n/a
46	chr5:35856424-35856474	Caco-2	colon:	n/a
47	chr5:35860337-35860387	HPAEpiC	pulmonary alveolar:	n/a
48	chr5:35860337-35860387	NHBE	bronchial:	n/a
49	chr5:35857130-35857180	LNCaP	prostate:	n/a
50	chr5:35860337-35860387	SK-N-SH_RA	brain:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:35859166..35861325-chr5:35861673..35863431,2	MCF-7	breast:
2	chr5:35859166..35861325-chr5:35861673..35863431,2	MCF-7	breast:

Variant related genes	Relation type
IL7R	TF binding region
IL7R	CpG island

Extended variants
information (count: 378 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:378 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374454138	chr5:35855264-35855265	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
2	rs561624800	chr5:35855331-35855332	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs530090298	chr5:35855337-35855338	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs11567681	chr5:35855355-35855356	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs141911251	chr5:35855389-35855390	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs4869492	chr5:35855410-35855411	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs532641635	chr5:35855557-35855558	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs11567682	chr5:35855585-35855586	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs189602116	chr5:35855739-35855740	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs565897251	chr5:35855758-35855759	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs528671757	chr5:35855761-35855762	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs539524496	chr5:35855767-35855768	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs548811784	chr5:35855826-35855827	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs373182313	chr5:35855841-35855842	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs572339688	chr5:35855865-35855866	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
16	rs180792876	chr5:35855887-35855888	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
17	rs61055010	chr5:35855907-35855908	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
18	rs186758628	chr5:35855917-35855918	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
19	rs7718919	chr5:35855996-35855997	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs191150399	chr5:35856010-35856011	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs546212564	chr5:35856017-35856018	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs181121482	chr5:35856039-35856040	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs11567683	chr5:35856069-35856070	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs397843900	chr5:35856078-35856079	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs77640107	chr5:35856080-35856081	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs7701176	chr5:35856116-35856117	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs190527800	chr5:35856203-35856204	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs374925199	chr5:35856207-35856208	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs575213762	chr5:35856208-35856209	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs183520392	chr5:35856215-35856216	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs563693460	chr5:35856264-35856265	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs536963130	chr5:35856301-35856302	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs375802785	chr5:35856409-35856410	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs539884931	chr5:35856495-35856496	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs557209009	chr5:35856503-35856504	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs559619396	chr5:35856517-35856518	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs528809971	chr5:35856525-35856526	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs6883856	chr5:35856526-35856527	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs150609754	chr5:35856546-35856547	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs11567684	chr5:35856558-35856559	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs551103152	chr5:35856568-35856569	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs188685496	chr5:35856570-35856571	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs11567685	chr5:35856575-35856576	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs539838758	chr5:35856584-35856585	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs113354773	chr5:35856590-35856591	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs11567686	chr5:35856630-35856631	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs537002348	chr5:35856642-35856643	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs11567687	chr5:35856646-35856647	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs139613838	chr5:35856718-35856719	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs372755834	chr5:35856815-35856816	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Myofibroblastic sarcoma	19369631	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	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
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Non-small cell lung cancer	19010865	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	19553991	CNVD
Lung cancer	19553991	CNVD
Melanoma	19553991	CNVD
Ovarian cancer	19553991	CNVD
Prostate cancer	19553991	CNVD
Non-small cell lung cancer	17156491	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Lung cancer	19153074	CNVD
Breast cancer	21364760	CNVD
Cornelia de Lange syndrome	21085971	CNVD
Autism	21701786	CNVD
Cervical cancer	16585170	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	21147910	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:382 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:35849600-35856200	Enhancers	Dnd41	blood
2	chr5:35851800-35856800	Enhancers	NHDF-Ad	bronchial
3	chr5:35852000-35856800	Enhancers	Primary B cells from cord blood	blood
4	chr5:35852400-35856200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:35852400-35856600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr5:35852400-35859200	Weak transcription	Lung	lung
7	chr5:35852400-35862800	Enhancers	Hela-S3	cervix
8	chr5:35852600-35855600	Weak transcription	A549	lung
9	chr5:35852600-35856400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr5:35852800-35856000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
11	chr5:35852800-35856600	Weak transcription	NH-A	brain
12	chr5:35852800-35857000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr5:35853000-35855400	Weak transcription	HSMMtube	muscle
14	chr5:35853000-35855400	Weak transcription	NHLF	lung
15	chr5:35853000-35856400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr5:35853000-35856400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr5:35853000-35856600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr5:35853000-35856600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr5:35853000-35856800	Enhancers	Muscle Satellite Cultured Cells	--
20	chr5:35853000-35857000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr5:35853400-35855400	Weak transcription	HSMM	muscle
22	chr5:35853600-35856800	Enhancers	Fetal Thymus	thymus
23	chr5:35853800-35855400	Enhancers	Primary B cells from peripheral blood	blood
24	chr5:35853800-35856400	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr5:35853800-35857200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr5:35853800-35858000	Enhancers	GM12878-XiMat	blood
27	chr5:35854000-35855600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr5:35854200-35856400	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr5:35854200-35856800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr5:35854200-35857000	Enhancers	NHEK	skin
31	chr5:35854200-35857800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr5:35854400-35855400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
33	chr5:35854400-35855800	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
34	chr5:35854400-35857200	Weak transcription	Esophagus	oesophagus
35	chr5:35854400-35857400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr5:35854800-35855400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
37	chr5:35854800-35856000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
38	chr5:35854800-35856200	Weak transcription	HMEC	breast
39	chr5:35854800-35856600	Flanking Active TSS	Primary T cells from cord blood	blood
40	chr5:35854800-35856800	Enhancers	Osteobl	bone
41	chr5:35854800-35857000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
42	chr5:35854800-35857000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
43	chr5:35854800-35857800	Weak transcription	Primary hematopoietic stem cells	blood
44	chr5:35855000-35855600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
45	chr5:35855000-35855600	Flanking Active TSS	Thymus	Thymus
46	chr5:35855000-35855800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
47	chr5:35855000-35855800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
48	chr5:35855000-35856000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
49	chr5:35855000-35857000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
50	chr5:35855200-35855400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links