Variant report

Variant	nsv890073
Chromosome Location	chr8:6899209-6940656
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	ARID3A	chr8:6923929-6924081	HepG2	liver:	n/a	n/a
2	BACH1	chr8:6917803-6918002	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr8:6917770-6917960	K562	blood:	n/a	n/a
4	BATF	chr8:6938472-6938796	GM12878	blood:	n/a	n/a
5	BATF	chr8:6929911-6930147	GM12878	blood:	n/a	n/a
6	BATF	chr8:6938414-6938789	GM12878	blood:	n/a	n/a
7	BCL11A	chr8:6938475-6938727	GM12878	blood:	n/a	n/a
8	CCNT2	chr8:6920354-6920525	K562	blood:	n/a	n/a
9	CEBPB	chr8:6921103-6921303	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr8:6921160-6921310	HRPEpiC	eye:	n/a	chr8:6921200-6921213 chr8:6921197-6921215 chr8:6921203-6921216 chr8:6921200-6921209
11	CTCF	chr8:6921140-6921290	GM12868	blood:	n/a	chr8:6921200-6921213 chr8:6921197-6921215 chr8:6921203-6921216 chr8:6921200-6921209
12	CTCF	chr8:6921130-6921290	GM10266	blood:	n/a	chr8:6921200-6921213 chr8:6921197-6921215 chr8:6921203-6921216 chr8:6921200-6921209
13	CTCF	chr8:6929948-6929976	GM13977	blood:	n/a	n/a
14	CTCF	chr8:6921159-6921258	Lung_OC	lung:	n/a	chr8:6921200-6921213 chr8:6921197-6921215 chr8:6921203-6921216 chr8:6921200-6921209
15	CTCF	chr8:6921053-6921366	K562	blood:	n/a	chr8:6921200-6921213 chr8:6921197-6921215 chr8:6921203-6921216 chr8:6921200-6921209
16	CTCF	chr8:6921160-6921310	NHDF-neo	bronchial:	n/a	chr8:6921200-6921213 chr8:6921197-6921215 chr8:6921203-6921216 chr8:6921200-6921209
17	CTCF	chr8:6921160-6921310	GM12869	blood:	n/a	chr8:6921200-6921213 chr8:6921197-6921215 chr8:6921203-6921216 chr8:6921200-6921209
18	CTCF	chr8:6921120-6921270	Hela-S3	cervix:	n/a	chr8:6921200-6921213 chr8:6921197-6921215 chr8:6921203-6921216 chr8:6921200-6921209
19	CTCF	chr8:6921160-6921310	HVMF	connective:	n/a	chr8:6921200-6921213 chr8:6921197-6921215 chr8:6921203-6921216 chr8:6921200-6921209
20	CTCF	chr8:6921113-6921269	GM10248	blood:	n/a	chr8:6921200-6921213 chr8:6921197-6921215 chr8:6921203-6921216 chr8:6921200-6921209
21	CTCF	chr8:6921140-6921290	SAEC	small airway:	n/a	chr8:6921200-6921213 chr8:6921197-6921215 chr8:6921203-6921216 chr8:6921200-6921209
22	CTCF	chr8:6921080-6921230	AG09309	skin:	n/a	chr8:6921200-6921213 chr8:6921197-6921215 chr8:6921203-6921216 chr8:6921200-6921209
23	CTCF	chr8:6921080-6921230	HFF	foreskin:	n/a	chr8:6921200-6921213 chr8:6921197-6921215 chr8:6921203-6921216 chr8:6921200-6921209
24	CTCF	chr8:6929100-6929250	GM12869	blood:	n/a	n/a
25	CTCF	chr8:6921138-6921246	SK-N-SH_RA	brain:	n/a	chr8:6921200-6921213 chr8:6921197-6921215 chr8:6921203-6921216 chr8:6921200-6921209
26	CTCF	chr8:6921096-6921308	MCF-7	breast:	n/a	chr8:6921200-6921213 chr8:6921197-6921215 chr8:6921203-6921216 chr8:6921200-6921209
27	CTCF	chr8:6929940-6930114	GM12892	blood:	n/a	n/a
28	CTCF	chr8:6926020-6926170	A549	lung:	n/a	n/a
29	CTCF	chr8:6921182-6921271	GM20000	blood:	n/a	chr8:6921200-6921213 chr8:6921197-6921215 chr8:6921203-6921216 chr8:6921200-6921209
30	CTCF	chr8:6921091-6921321	Spleen_OC	spleen:	n/a	chr8:6921200-6921213 chr8:6921197-6921215 chr8:6921203-6921216 chr8:6921200-6921209
31	CTCF	chr8:6921037-6921416	MCF-7	breast:	n/a	chr8:6921200-6921213 chr8:6921197-6921215 chr8:6921203-6921216 chr8:6921200-6921209
32	CTCF	chr8:6921080-6921230	HL-60	blood:	n/a	chr8:6921200-6921213 chr8:6921197-6921215 chr8:6921203-6921216 chr8:6921200-6921209
33	CTCF	chr8:6921033-6921368	HepG2	liver:	n/a	chr8:6921200-6921213 chr8:6921197-6921215 chr8:6921203-6921216 chr8:6921200-6921209
34	CTCF	chr8:6921020-6921390	K562	blood:	n/a	chr8:6921200-6921213 chr8:6921197-6921215 chr8:6921203-6921216 chr8:6921200-6921209
35	CTCF	chr8:6921060-6921210	HMEC	breast:	n/a	chr8:6921200-6921209
36	CTCF	chr8:6921100-6921250	HBMEC	blood vessel:	n/a	chr8:6921200-6921213 chr8:6921197-6921215 chr8:6921203-6921216 chr8:6921200-6921209
37	CTCF	chr8:6921120-6921270	HRE	kidney:	n/a	chr8:6921200-6921213 chr8:6921197-6921215 chr8:6921203-6921216 chr8:6921200-6921209
38	CTCF	chr8:6921100-6921250	GM12872	blood:	n/a	chr8:6921200-6921213 chr8:6921197-6921215 chr8:6921203-6921216 chr8:6921200-6921209
39	CTCF	chr8:6921120-6921270	HA-sp	spinal cord:	n/a	chr8:6921200-6921213 chr8:6921197-6921215 chr8:6921203-6921216 chr8:6921200-6921209
40	CTCF	chr8:6930151-6930180	GM13976	blood:	n/a	n/a
41	CTCF	chr8:6921160-6921310	HCT-116	colon:	n/a	chr8:6921200-6921213 chr8:6921197-6921215 chr8:6921203-6921216 chr8:6921200-6921209
42	CTCF	chr8:6921089-6921318	GM19238	blood:	n/a	chr8:6921200-6921213 chr8:6921197-6921215 chr8:6921203-6921216 chr8:6921200-6921209
43	CTCF	chr8:6921100-6921311	LNCaP	prostate:	n/a	chr8:6921200-6921213 chr8:6921197-6921215 chr8:6921203-6921216 chr8:6921200-6921209
44	CTCF	chr8:6921093-6921314	ProgFib	skin:	n/a	chr8:6921200-6921213 chr8:6921197-6921215 chr8:6921203-6921216 chr8:6921200-6921209
45	CTCF	chr8:6921140-6921290	GM12872	blood:	n/a	chr8:6921200-6921213 chr8:6921197-6921215 chr8:6921203-6921216 chr8:6921200-6921209
46	CTCF	chr8:6925799-6925869	MCF-7	breast:	n/a	chr8:6925844-6925857 chr8:6925841-6925859
47	CTCF	chr8:6921140-6921290	GM12867	blood:	n/a	chr8:6921200-6921213 chr8:6921197-6921215 chr8:6921203-6921216 chr8:6921200-6921209
48	CTCF	chr8:6921090-6921289	SK-N-SH_RA	brain:	n/a	chr8:6921200-6921213 chr8:6921197-6921215 chr8:6921203-6921216 chr8:6921200-6921209
49	CTCF	chr8:6920994-6921329	K562	blood:	n/a	chr8:6921200-6921213 chr8:6921197-6921215 chr8:6921203-6921216 chr8:6921200-6921209
50	CTCF	chr8:6921093-6921323	HUVEC	blood vessel:	n/a	chr8:6921200-6921213 chr8:6921197-6921215 chr8:6921203-6921216 chr8:6921200-6921209

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:6931195-6931245	Jurkat	blood:	n/a
2	chr8:6922512-6922562	GM19239	blood:	n/a
3	chr8:6931195-6931245	Jurkat	blood:	n/a
4	chr8:6922512-6922562	GM19239	blood:	n/a
5	chr8:6932742-6932792	MCF-7	breast:	n/a
6	chr8:6924637-6924687	AG04450	lung:	fetal
7	chr8:6914549-6914599	IMR90	lung:	fetal
8	chr8:6914549-6914599	HUVEC	blood vessel:	n/a
9	chr8:6940624-6940674	ovcar-3	ovarian:	n/a
10	chr8:6922512-6922562	Jurkat	blood:	n/a
11	chr8:6922925-6922975	T-47D	breast:	n/a
12	chr8:6924535-6924585	HCPEpiC	choroid plexus:	n/a
13	chr8:6913441-6913491	NHDF-neo	bronchial:	n/a
14	chr8:6924637-6924687	HAEpiC	amniotic membrane:	n/a
15	chr8:6924737-6924787	HNPCEpiC	eye:	n/a
16	chr8:6923399-6923449	AG04449	skin:	fetal
17	chr8:6932742-6932792	HPAEpiC	pulmonary alveolar:	n/a
18	chr8:6913441-6913491	RPTEC	kidney:	n/a
19	chr8:6931195-6931245	SK-N-SH_RA	brain:	n/a
20	chr8:6931195-6931245	HCM	heart:	n/a
21	chr8:6932644-6932694	H1-hESC	embryonic stem cell:	embryo
22	chr8:6931195-6931245	Hepatocyte	liver:	n/a
23	chr8:6932644-6932694	HRCEpiC	kidney:	n/a
24	chr8:6923300-6923350	HCF	heart:	n/a
25	chr8:6924535-6924585	NHBE	bronchial:	n/a
26	chr8:6914549-6914599	Caco-2	colon:	n/a
27	chr8:6922705-6922755	ovcar-3	ovarian:	n/a
28	chr8:6940624-6940674	AG04450	lung:	fetal
29	chr8:6940591-6940641	HepG2	liver:	n/a
30	chr8:6913030-6913080	A549	lung:	n/a
31	chr8:6913030-6913080	HRE	kidney:	n/a
32	chr8:6924637-6924687	ovcar-3	ovarian:	n/a
33	chr8:6923399-6923449	H1-hESC	embryonic stem cell:	embryo
34	chr8:6922512-6922562	HMEC	breast:	n/a
35	chr8:6924737-6924787	CMK	blood:	n/a
36	chr8:6913030-6913080	HIPEpiC	eye:	n/a
37	chr8:6924737-6924787	RPTEC	kidney:	n/a
38	chr8:6924637-6924687	BE2_C	brain:	n/a
39	chr8:6914549-6914599	Jurkat	blood:	n/a
40	chr8:6922925-6922975	GM12891	blood:	n/a
41	chr8:6940624-6940674	HMEC	breast:	n/a
42	chr8:6932793-6932843	T-47D	breast:	n/a
43	chr8:6930612-6930662	BE2_C	brain:	n/a
44	chr8:6914549-6914599	BJ	skin:	n/a
45	chr8:6924535-6924585	SAEC	small airway:	n/a
46	chr8:6922925-6922975	Hepatocyte	liver:	n/a
47	chr8:6931195-6931245	PANC-1	pancreas:	n/a
48	chr8:6930612-6930662	AG09309	skin:	n/a
49	chr8:6924737-6924787	HL-60	blood:	n/a
50	chr8:6922512-6922562	SK-N-SH_RA	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:105516677..105517395-chr8:6930845..6931347,2	Hela-S3	cervix:
2	chr8:6899597..6901934-chr8:6903996..6906474,2	K562	blood:
3	chr8:6909298..6911285-chr8:6912423..6915127,2	MCF-7	breast:
4	chr8:6899597..6901934-chr8:6903996..6906474,2	K562	blood:

Variant related genes	Relation type
DEFA5	TF binding region
ENSG00000255273	TF binding region
DEFA7P	TF binding region
DEFA5	CpG island
ENSG00000255273	CpG island
DEFA7P	CpG island
ENSG00000146776	chromatin interactions
ENSG00000128536	chromatin interactions
ENSG00000164816	chromatin interactions

Extended variants
information (count: 1274 )
Associated
traits (count: 141 )

Variant overlapped rSNPs/rCNVs (count:1274 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13274544	chr8:6899209-6899210	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs561709297	chr8:6899240-6899241	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs13439266	chr8:6899262-6899263	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs137979622	chr8:6899264-6899265	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs568133128	chr8:6899275-6899276	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs534004093	chr8:6899284-6899285	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs553830759	chr8:6899289-6899290	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs57405465	chr8:6899297-6899298	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs538818591	chr8:6899302-6899303	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs370835173	chr8:6899309-6899310	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs536830046	chr8:6899317-6899318	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs60194896	chr8:6899318-6899319	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs374384507	chr8:6899323-6899324	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs576497434	chr8:6899365-6899366	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs544528323	chr8:6899373-6899374	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs114718402	chr8:6899419-6899420	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs181052806	chr8:6899420-6899421	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs540258900	chr8:6899449-6899450	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs12716643	chr8:6899486-6899487	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs12716644	chr8:6899489-6899490	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs139870554	chr8:6899492-6899493	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs543984437	chr8:6899494-6899495	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs71856005	chr8:6899508-6899509	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs375558275	chr8:6899510-6899511	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs79577291	chr8:6899562-6899563	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs562941979	chr8:6899572-6899573	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs539218983	chr8:6899579-6899580	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs531842725	chr8:6899585-6899586	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs75673586	chr8:6899607-6899608	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs367732499	chr8:6899613-6899614	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs568444658	chr8:6899616-6899617	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs527666489	chr8:6899634-6899635	Weak transcription Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs186812743	chr8:6899653-6899654	Weak transcription Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs375873035	chr8:6899668-6899669	Weak transcription Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs78089074	chr8:6899670-6899671	Weak transcription Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs142587124	chr8:6899681-6899682	Weak transcription Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs372019839	chr8:6899716-6899717	Weak transcription Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs558678457	chr8:6899717-6899718	Weak transcription Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs145959596	chr8:6899719-6899720	Weak transcription Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs538108499	chr8:6899731-6899732	Weak transcription Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs554880745	chr8:6899750-6899751	Weak transcription Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs574818488	chr8:6899758-6899759	Weak transcription Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs540224082	chr8:6899761-6899762	Weak transcription Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs553531044	chr8:6899775-6899776	Weak transcription Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs576822114	chr8:6899779-6899780	Weak transcription Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs191709476	chr8:6899797-6899798	Weak transcription Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs563072342	chr8:6899800-6899801	Weak transcription Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs11989117	chr8:6899808-6899809	Weak transcription Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs542055447	chr8:6899810-6899811	Weak transcription Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs111382143	chr8:6899819-6899820	Weak transcription Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:141)

Disease	PMID	Source
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
Prostate cancer	16573809	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Epilepsy	22083797	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Autism	22495311	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Cancer	20164919	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21364760	CNVD
Gastric cancer	18160780	CNVD
Breast cancer	21990379	CNVD
Psoriasis	20403174	CNVD
Psoriasis	20663923	CNVD
Crohn''s disease	16909382	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Crohn''s disease	20877625	CNVD
Inflammatory disorder	20877625	CNVD
Cardiac defect	21933911	CNVD
Psoriasis	18059266	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Psoriasis	20877625	CNVD
Mental retardation	17847001	CNVD
Prostate cancer	17217626	CNVD
Schizophrenia	21399695	CNVD
Colorectal cancer	21128281	CNVD
Colorectal cancer	19455253	CNVD
Psoriasis	18848619	CNVD
Squamous cell cancer	19047905	CNVD
Colorectal cancer	17229543	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Bladder cancer	21909424	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Cognitive impairment	21505072	CNVD
Breast cancer	17142309	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Autism	21865298	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	20967226	CNVD
Incontinentia Pigmenti	22033527	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6892800-6901000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:6896200-6900400	Enhancers	Dnd41	blood
3	chr8:6898400-6901600	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr8:6899000-6900000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr8:6899200-6900600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
6	chr8:6899200-6900800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr8:6899600-6900400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
8	chr8:6899600-6900600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
9	chr8:6899600-6901000	Enhancers	Spleen	Spleen
10	chr8:6900000-6900400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr8:6900400-6901000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr8:6901000-6901200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr8:6901600-6903600	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr8:6903600-6905200	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr8:6905000-6905200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr8:6905200-6905400	Bivalent Enhancer	Esophagus	oesophagus
17	chr8:6907200-6908800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr8:6929200-6929600	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr8:6930200-6930600	Enhancers	Placenta	Placenta
20	chr8:6930200-6930800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr8:6937000-6940000	Enhancers	Primary B cells from peripheral blood	blood
22	chr8:6937200-6940000	Enhancers	Primary B cells from cord blood	blood
23	chr8:6938400-6939400	Enhancers	GM12878-XiMat	blood
24	chr8:6940600-6940800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr8:6940600-6940800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr8:6940600-6940800	Enhancers	Spleen	Spleen

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links