Variant report

Variant	nsv891409
Chromosome Location	chr8:117948986-117972064
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:276)
CpG islands
(count:1343)
Chromatin interactive
region (count:11)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:276 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr8:117959956-117960157	K562	blood:	n/a	n/a
2	BACH1	chr8:117950454-117950738	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr8:117950760-117950785	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr8:117950193-117950379	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr8:117968319-117968595	A549	lung:	n/a	n/a
6	CHD1	chr8:117951006-117951087	H1-hESC	embryonic stem cell:	n/a	n/a
7	CHD1	chr8:117950544-117950651	H1-hESC	embryonic stem cell:	n/a	n/a
8	CHD2	chr8:117950590-117951045	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTBP2	chr8:117950435-117951067	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr8:117950506-117950816	GM12878	blood:	n/a	n/a
11	CTCF	chr8:117950560-117950710	HA-sp	spinal cord:	n/a	n/a
12	CTCF	chr8:117966460-117966610	HVMF	connective:	n/a	n/a
13	CTCF	chr8:117950540-117950690	GM12870	blood:	n/a	n/a
14	CTCF	chr8:117966300-117966450	AG10803	skin:	n/a	n/a
15	CTCF	chr8:117966440-117966590	HEK293	kidney:	n/a	n/a
16	CTCF	chr8:117966360-117966510	Hela-S3	cervix:	n/a	n/a
17	CTCF	chr8:117950540-117950690	AG09319	gingival:	n/a	n/a
18	CTCF	chr8:117950700-117950850	MCF-7	breast:	n/a	n/a
19	CTCF	chr8:117966360-117966510	HCFaa	heart:	n/a	n/a
20	CTCF	chr8:117950606-117950657	Gliobla	brain:	n/a	n/a
21	CTCF	chr8:117950580-117950730	AG04449	skin:	n/a	n/a
22	CTCF	chr8:117966360-117966510	GM12869	blood:	n/a	n/a
23	CTCF	chr8:117950525-117950744	MCF-7	breast:	n/a	n/a
24	CTCF	chr8:117950520-117950670	HBMEC	blood vessel:	n/a	n/a
25	CTCF	chr8:117966474-117966479	HUVEC	blood vessel:	n/a	n/a
26	CTCF	chr8:117966340-117966490	AG04449	skin:	n/a	n/a
27	CTCF	chr8:117950560-117950710	BJ	skin:	n/a	n/a
28	CTCF	chr8:117950480-117950630	HRE	kidney:	n/a	n/a
29	CTCF	chr8:117950520-117950670	HMEC	breast:	n/a	n/a
30	CTCF	chr8:117950480-117950630	NHEK	skin:	n/a	n/a
31	CTCF	chr8:117950560-117950710	SK-N-SH_RA	brain:	n/a	n/a
32	CTCF	chr8:117950546-117950762	K562	blood:	n/a	n/a
33	CTCF	chr8:117950544-117950807	Fibrobl	skin:	n/a	n/a
34	CTCF	chr8:117966380-117966530	AG04449	skin:	n/a	n/a
35	CTCF	chr8:117967620-117967770	GM06990	blood:	n/a	n/a
36	CTCF	chr8:117950563-117950753	IMR90	lung:	n/a	n/a
37	CTCF	chr8:117966340-117966490	AG09309	skin:	n/a	n/a
38	CTCF	chr8:117950460-117950610	HPAF	blood vessel:	n/a	n/a
39	CTCF	chr8:117950548-117950731	MCF-7	breast:	n/a	n/a
40	CTCF	chr8:117966320-117966470	Caco-2	colon:	n/a	n/a
41	CTCF	chr8:117966320-117966470	GM12872	blood:	n/a	n/a
42	CTCF	chr8:117966400-117966550	HMEC	breast:	n/a	n/a
43	CTCF	chr8:117966300-117966450	AG09319	gingival:	n/a	n/a
44	CTCF	chr8:117966340-117966490	GM12864	blood:	n/a	n/a
45	CTCF	chr8:117966340-117966490	GM12878	blood:	n/a	n/a
46	CTCF	chr8:117950560-117950710	HMF	breast:	n/a	n/a
47	CTCF	chr8:117950500-117950650	HCPEpiC	choroid plexus:	n/a	n/a
48	CTCF	chr8:117966360-117966510	NHDF-neo	bronchial:	n/a	n/a
49	CTCF	chr8:117966320-117966470	SAEC	small airway:	n/a	n/a
50	CTCF	chr8:117950520-117950902	MCF-7	breast:	n/a	n/a

(count:1343 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:117954154-117954204	HRPEpiC	eye:	n/a
2	chr8:117954154-117954204	HRPEpiC	eye:	n/a
3	chr8:117952708-117952758	HRCEpiC	kidney:	n/a
4	chr8:117950504-117950554	ProgFib	skin:	n/a
5	chr8:117950929-117950979	BE2_C	brain:	n/a
6	chr8:117961971-117962021	HAEpiC	amniotic membrane:	n/a
7	chr8:117950244-117950294	AG09319	gingival:	n/a
8	chr8:117950348-117950398	AG04450	lung:	fetal
9	chr8:117950473-117950523	PFSK-1	brain:	n/a
10	chr8:117963055-117963105	HCT-116	colon:	n/a
11	chr8:117950504-117950554	LNCaP	prostate:	n/a
12	chr8:117962136-117962186	Caco-2	colon:	n/a
13	chr8:117950348-117950398	AG09309	skin:	n/a
14	chr8:117949637-117949687	HRCEpiC	kidney:	n/a
15	chr8:117950929-117950979	ProgFib	skin:	n/a
16	chr8:117949839-117949889	HCPEpiC	choroid plexus:	n/a
17	chr8:117962426-117962476	ovcar-3	ovarian:	n/a
18	chr8:117950348-117950398	MCF-7	breast:	n/a
19	chr8:117962136-117962186	HCPEpiC	choroid plexus:	n/a
20	chr8:117950454-117950504	SK-N-SH	brain:	n/a
21	chr8:117954965-117955015	HEK293	kidney:	embryo
22	chr8:117963055-117963105	A549	lung:	n/a
23	chr8:117950395-117950445	AG04450	lung:	fetal
24	chr8:117962136-117962186	NT2-D1	testis:	n/a
25	chr8:117954965-117955015	K562	blood:	n/a
26	chr8:117950454-117950504	SK-N-MC	brain:	n/a
27	chr8:117962136-117962186	GM12878	blood:	n/a
28	chr8:117952035-117952085	HCPEpiC	choroid plexus:	n/a
29	chr8:117952035-117952085	AG04449	skin:	fetal
30	chr8:117952035-117952085	GM12878	blood:	n/a
31	chr8:117950395-117950445	K562	blood:	n/a
32	chr8:117950454-117950504	IMR90	lung:	fetal
33	chr8:117962426-117962476	HCF	heart:	n/a
34	chr8:117950348-117950398	HL-60	blood:	n/a
35	chr8:117949839-117949889	HCF	heart:	n/a
36	chr8:117952035-117952085	AG09309	skin:	n/a
37	chr8:117950395-117950445	MCF-7	breast:	n/a
38	chr8:117963055-117963105	Caco-2	colon:	n/a
39	chr8:117952035-117952085	GM06990	blood:	n/a
40	chr8:117963055-117963105	SAEC	small airway:	n/a
41	chr8:117950929-117950979	SK-N-SH	brain:	n/a
42	chr8:117962470-117962520	K562	blood:	n/a
43	chr8:117950825-117950875	Hepatocyte	liver:	n/a
44	chr8:117950395-117950445	PrEC	prostate:	n/a
45	chr8:117962426-117962476	H1-hESC	embryonic stem cell:	embryo
46	chr8:117952035-117952085	ECC-1	luminal epithelium:	n/a
47	chr8:117950504-117950554	HIPEpiC	eye:	n/a
48	chr8:117962136-117962186	HUVEC	blood vessel:	n/a
49	chr8:117963055-117963105	HCPEpiC	choroid plexus:	n/a
50	chr8:117954154-117954204	MCF-7	breast:	n/a

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:117965247..117967783-chr8:117993532..117995736,2	MCF-7	breast:
2	chr8:117957934..117960768-chr8:117963389..117965373,2	K562	blood:
3	chr8:117884633..117886781-chr8:117953971..117956784,2	MCF-7	breast:
4	chr8:117950391..117953152-chr8:117955778..117958546,2	K562	blood:
5	chr8:117950738..117952967-chr8:117961250..117964498,3	MCF-7	breast:
6	chr8:117957934..117960768-chr8:117963389..117965373,2	K562	blood:
7	chr8:117953865..117956364-chr8:117964766..117966633,2	K562	blood:
8	chr8:117950738..117952967-chr8:117961250..117964498,3	MCF-7	breast:
9	chr8:117950391..117953601-chr8:117955778..117958546,3	K562	blood:
10	chr8:117953865..117956364-chr8:117964766..117966633,2	K562	blood:
11	chr8:117965975..117966904-chr8:118049849..118050385,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC30A8-1	chr8:117950785-117950919	NONHSAT128384
2	lnc-SLC30A8-1	chr8:117954797-117955161	NONHSAT128384
3	lnc-C8orf85-5	chr8:117963188-117963358	NONHSAT128385
4	lnc-RAD21-1	chr8:117947899-117950697	NONHSAT128383

No data

Variant related genes	Relation type
SLC30A8	TF binding region
AARD	TF binding region
SLC30A8	CpG island
AARD	CpG island
ENSG00000164754	chromatin interactions
ENSG00000205002	chromatin interactions
ENSG00000164756	chromatin interactions

Extended variants
information (count: 645 )
Associated
traits (count: 140 )

Variant overlapped rSNPs/rCNVs (count:645 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs958637	chr8:117948986-117948987	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
2	rs146463307	chr8:117948991-117948992	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs140770374	chr8:117949053-117949054	Weak transcription Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs377629595	chr8:117949072-117949073	Weak transcription Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs552946763	chr8:117949086-117949087	Weak transcription Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs575002011	chr8:117949175-117949176	Weak transcription Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs187218408	chr8:117949194-117949195	Weak transcription Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs190648139	chr8:117949200-117949201	Weak transcription Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs575422792	chr8:117949244-117949245	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs35446138	chr8:117949271-117949272	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs150152012	chr8:117949276-117949277	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs117859137	chr8:117949311-117949312	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs573017454	chr8:117949357-117949358	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs540237209	chr8:117949375-117949376	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs181508031	chr8:117949395-117949396	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs562117242	chr8:117949401-117949402	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs148903988	chr8:117949450-117949451	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs115898022	chr8:117949534-117949535	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs563482945	chr8:117949576-117949577	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs2921723	chr8:117949584-117949585	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs12676873	chr8:117949597-117949598	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs570526220	chr8:117949638-117949639	Enhancers Bivalent/Poised TSS Weak transcription Active TSS	CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
23	rs534727243	chr8:117949669-117949670	Enhancers Bivalent/Poised TSS Weak transcription Active TSS	CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
24	rs3020179	chr8:117949702-117949703	Enhancers Bivalent/Poised TSS Weak transcription Active TSS	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs3020180	chr8:117949756-117949757	Enhancers Bivalent/Poised TSS Weak transcription Active TSS	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs543819796	chr8:117949868-117949869	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
27	rs563611239	chr8:117949923-117949924	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
28	rs577122528	chr8:117949955-117949956	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs535143864	chr8:117949959-117949960	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs185758719	chr8:117950038-117950039	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs35202642	chr8:117950059-117950060	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs575568412	chr8:117950063-117950064	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
33	rs539611311	chr8:117950069-117950070	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
34	rs139053669	chr8:117950086-117950087	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
35	rs557952159	chr8:117950103-117950104	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
36	rs190174033	chr8:117950203-117950204	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
37	rs572955088	chr8:117950204-117950205	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
38	rs540733105	chr8:117950250-117950251	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
39	rs78108325	chr8:117950273-117950274	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
40	rs573978017	chr8:117950275-117950276	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
41	rs544309985	chr8:117950352-117950353	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs182953716	chr8:117950421-117950422	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
43	rs530839997	chr8:117950443-117950444	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
44	rs143028476	chr8:117950474-117950475	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
45	rs374256336	chr8:117950478-117950479	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
46	rs564274132	chr8:117950501-117950502	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs144192535	chr8:117950513-117950514	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs147761000	chr8:117950524-117950525	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs528133457	chr8:117950529-117950530	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs368209233	chr8:117950530-117950531	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:140)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Chronic myeloid leukemia	21384125	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	20164920	CNVD
Breast cancer	20932292	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	17268525	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	19204574	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	22056952	CNVD
Langer-Giedion syndrome	16773131	CNVD
Lung cancer	16740712	CNVD
Mental retardation	16773131	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Langer-Giedion syndrome	22470819	CNVD
Cornelia de Lange syndrome	24599119	CNVD
Gastric cancer	21528007	CNVD
Breast cancer	22532251	CNVD
Cervical cancer	21062161	CNVD
Cancer	21129771	CNVD
benign familial neonatal convulsions	18472482	CNVD
Breast cancer	16417655	CNVD
Astrocytoma	17387387	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	20814816	CNVD
Colorectal cancer	22486879	CNVD
Breast cancer	17908964	CNVD
Colorectal cancer	20031965	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian cancer	17908964	CNVD
Ovarian cancer	20031965	CNVD
Prostate cancer	20031965	CNVD
Non-small cell lung cancer	17643093	CNVD
Prostate cancer	19242612	CNVD
Colorectal cancer	16774939	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	18628472	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Cancer	20164919	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22537934	CNVD
Breast cancer	21255398	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:335 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117939200-117949800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr8:117940000-117949600	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr8:117940400-117949600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:117946400-117949600	Enhancers	HMEC	breast
5	chr8:117948000-117950600	Weak transcription	NHEK	skin
6	chr8:117948400-117950000	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr8:117948800-117949800	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr8:117949000-117949200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:117949400-117949800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr8:117949600-117949800	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr8:117949600-117949800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
12	chr8:117949600-117949800	Active TSS	HMEC	breast
13	chr8:117949600-117950200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr8:117949600-117951000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
15	chr8:117949600-117951200	Active TSS	Colon Smooth Muscle	Colon
16	chr8:117949800-117950000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
17	chr8:117949800-117950000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
18	chr8:117949800-117950000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr8:117949800-117950000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr8:117949800-117950000	Enhancers	Brain Cingulate Gyrus	brain
21	chr8:117949800-117950000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr8:117949800-117950000	Flanking Active TSS	HMEC	breast
23	chr8:117949800-117950200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
24	chr8:117949800-117950200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
25	chr8:117949800-117950200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr8:117949800-117950200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
27	chr8:117949800-117950200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr8:117949800-117950200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
29	chr8:117949800-117950200	Enhancers	Placenta Amnion	Placenta Amnion
30	chr8:117949800-117950600	Bivalent/Poised TSS	Fetal Lung	lung
31	chr8:117949800-117950800	Enhancers	Gastric	stomach
32	chr8:117949800-117951200	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr8:117949800-117951200	Active TSS	Rectal Smooth Muscle	rectum
34	chr8:117949800-117951400	Active TSS	ES-I3 Cell Line	embryonic stem cell
35	chr8:117949800-117951400	Active TSS	H1 Cell Line	embryonic stem cell
36	chr8:117949800-117951400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr8:117949800-117951400	Active TSS	Stomach Smooth Muscle	stomach
38	chr8:117950000-117950200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
39	chr8:117950000-117950200	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
40	chr8:117950000-117950200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
41	chr8:117950000-117950200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr8:117950000-117950200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr8:117950000-117950200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
44	chr8:117950000-117950200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
45	chr8:117950000-117950200	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr8:117950000-117950200	Bivalent Enhancer	Stomach Mucosa	stomach
47	chr8:117950000-117950400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr8:117950000-117950400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr8:117950000-117950400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr8:117950000-117950400	Weak transcription	Brain Cingulate Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links