Variant report

Variant	nsv1025860
Chromosome Location	chr8:6328628-6360743
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:228)
CpG islands
(count:184)
Chromatin interactive
region (count:13)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:228 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr8:6351266-6351531	GM12878	blood:	n/a	n/a
2	BRCA1	chr8:6351090-6351120	Hela-S3	cervix:	n/a	n/a
3	BRCA1	chr8:6344592-6344952	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr8:6338179-6338319	HepG2	liver:	n/a	n/a
5	CEBPB	chr8:6343211-6343297	K562	blood:	n/a	n/a
6	CEBPB	chr8:6337007-6337094	K562	blood:	n/a	n/a
7	CEBPB	chr8:6338927-6339192	IMR90	lung:	n/a	n/a
8	CHD2	chr8:6347605-6347621	HepG2	liver:	n/a	n/a
9	CTCF	chr8:6345825-6345924	LNCaP	prostate:	n/a	n/a
10	CTCF	chr8:6345800-6345950	GM12878	blood:	n/a	n/a
11	CTCF	chr8:6345780-6345930	NHDF-neo	bronchial:	n/a	n/a
12	CTCF	chr8:6345780-6345930	GM12873	blood:	n/a	n/a
13	CTCF	chr8:6345780-6345930	AG04450	lung:	n/a	n/a
14	CTCF	chr8:6345800-6345950	HRPEpiC	eye:	n/a	n/a
15	CTCF	chr8:6345819-6345948	K562	blood:	n/a	n/a
16	CTCF	chr8:6345820-6345970	HAc	cerebellar:	n/a	n/a
17	CTCF	chr8:6345846-6345877	NHEK	skin:	n/a	n/a
18	CTCF	chr8:6345840-6345990	HMF	breast:	n/a	n/a
19	CTCF	chr8:6345800-6345950	AG09319	gingival:	n/a	n/a
20	CTCF	chr8:6345780-6345930	K562	blood:	n/a	n/a
21	CTCF	chr8:6345800-6345950	NHEK	skin:	n/a	n/a
22	CTCF	chr8:6345760-6345910	HepG2	liver:	n/a	n/a
23	CTCF	chr8:6345780-6345930	HBMEC	blood vessel:	n/a	n/a
24	CTCF	chr8:6360462-6360573	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr8:6345760-6345910	NHEK	skin:	n/a	n/a
26	CTCF	chr8:6343072-6343290	K562	blood:	n/a	n/a
27	CTCF	chr8:6345760-6345910	HCFaa	heart:	n/a	n/a
28	CTCF	chr8:6345729-6345980	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr8:6345700-6345850	HMEC	breast:	n/a	n/a
30	CTCF	chr8:6345840-6345990	NHLF	lung:	n/a	n/a
31	CTCF	chr8:6345840-6345990	AG10803	skin:	n/a	n/a
32	CTCF	chr8:6345434-6346046	SK-N-SH	brain:	n/a	chr8:6345657-6345670
33	CTCF	chr8:6345780-6345930	SK-N-SH_RA	brain:	n/a	n/a
34	CTCF	chr8:6345840-6345990	HCM	heart:	n/a	n/a
35	CTCF	chr8:6360440-6360590	BE2_C	brain:	n/a	n/a
36	CTCF	chr8:6345760-6345910	Hela-S3	cervix:	n/a	n/a
37	CTCF	chr8:6345760-6345910	HMEC	breast:	n/a	n/a
38	CTCF	chr8:6345780-6345930	HRPEpiC	eye:	n/a	n/a
39	CTCF	chr8:6360400-6360550	K562	blood:	n/a	n/a
40	CTCF	chr8:6345860-6346010	HAc	cerebellar:	n/a	n/a
41	CTCF	chr8:6345800-6345959	HepG2	liver:	n/a	n/a
42	CTCF	chr8:6345760-6345910	AG09319	gingival:	n/a	n/a
43	CTCF	chr8:6343125-6343258	Hela-S3	cervix:	n/a	n/a
44	CTCF	chr8:6345807-6345892	Fibrobl	skin:	n/a	n/a
45	CTCF	chr8:6345760-6345910	BJ	skin:	n/a	n/a
46	CTCF	chr8:6345740-6345890	HA-sp	spinal cord:	n/a	n/a
47	CTCF	chr8:6345799-6345919	SK-N-SH_RA	brain:	n/a	n/a
48	CTCF	chr8:6345868-6345911	GM10266	blood:	n/a	n/a
49	CTCF	chr8:6345669-6345706	Fibrobl	skin:	n/a	n/a
50	CTCF	chr8:6345758-6346045	IMR90	lung:	n/a	n/a

(count:184 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:6360436-6360486	GM19239	blood:	n/a
2	chr8:6360436-6360486	GM19239	blood:	n/a
3	chr8:6360436-6360486	LNCaP	prostate:	n/a
4	chr8:6360436-6360486	AG04450	lung:	fetal
5	chr8:6328807-6328857	T-47D	breast:	n/a
6	chr8:6360436-6360486	Jurkat	blood:	n/a
7	chr8:6345256-6345306	AG09319	gingival:	n/a
8	chr8:6345256-6345306	HNPCEpiC	eye:	n/a
9	chr8:6345256-6345306	BJ	skin:	n/a
10	chr8:6360436-6360486	NB4	blood:	n/a
11	chr8:6345256-6345306	PFSK-1	brain:	n/a
12	chr8:6328807-6328857	GM12892	blood:	n/a
13	chr8:6328807-6328857	SAEC	small airway:	n/a
14	chr8:6360436-6360486	CMK	blood:	n/a
15	chr8:6345256-6345306	H1-hESC	embryonic stem cell:	embryo
16	chr8:6328807-6328857	AG09319	gingival:	n/a
17	chr8:6360436-6360486	SK-N-SH	brain:	n/a
18	chr8:6345256-6345306	SK-N-MC	brain:	n/a
19	chr8:6328807-6328857	K562	blood:	n/a
20	chr8:6360436-6360486	SKMC	muscle:	n/a
21	chr8:6328807-6328857	GM12891	blood:	n/a
22	chr8:6345256-6345306	HPAEpiC	pulmonary alveolar:	n/a
23	chr8:6328807-6328857	HNPCEpiC	eye:	n/a
24	chr8:6328807-6328857	SK-N-MC	brain:	n/a
25	chr8:6328807-6328857	AG09309	skin:	n/a
26	chr8:6345256-6345306	HAEpiC	amniotic membrane:	n/a
27	chr8:6360436-6360486	HRCEpiC	kidney:	n/a
28	chr8:6328807-6328857	GM06990	blood:	n/a
29	chr8:6328807-6328857	NH-A	brain:	n/a
30	chr8:6360436-6360486	HUVEC	blood vessel:	n/a
31	chr8:6328807-6328857	HCT-116	colon:	n/a
32	chr8:6328807-6328857	NT2-D1	testis:	n/a
33	chr8:6360436-6360486	HL-60	blood:	n/a
34	chr8:6345256-6345306	SK-N-SH_RA	brain:	n/a
35	chr8:6328807-6328857	MCF-7	breast:	n/a
36	chr8:6345256-6345306	HL-60	blood:	n/a
37	chr8:6345256-6345306	PANC-1	pancreas:	n/a
38	chr8:6345256-6345306	IMR90	lung:	fetal
39	chr8:6345256-6345306	ECC-1	luminal epithelium:	n/a
40	chr8:6328807-6328857	BE2_C	brain:	n/a
41	chr8:6328807-6328857	A549	lung:	n/a
42	chr8:6345256-6345306	GM12878	blood:	n/a
43	chr8:6345256-6345306	T-47D	breast:	n/a
44	chr8:6345256-6345306	MCF10A-Er-Src	breast:	n/a
45	chr8:6360436-6360486	Caco-2	colon:	n/a
46	chr8:6345256-6345306	NHDF-neo	bronchial:	n/a
47	chr8:6345256-6345306	AG10803	skin:	n/a
48	chr8:6360436-6360486	HepG2	liver:	n/a
49	chr8:6360436-6360486	AoSMC	blood vessel:	n/a
50	chr8:6345256-6345306	K562	blood:	n/a

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:6357189..6359349-chr8:6362649..6365411,2	K562	blood:
2	chr8:6339705..6342364-chr8:6348069..6350911,2	K562	blood:
3	chr8:6340740..6343384-chr8:6345418..6348031,2	K562	blood:
4	chr8:6340740..6344062-chr8:6345418..6348031,3	K562	blood:
5	chr8:6339705..6342364-chr8:6348069..6350911,2	K562	blood:
6	chr8:6340740..6344062-chr8:6345418..6348031,3	K562	blood:
7	chr8:6350753..6353576-chr8:6355217..6356986,2	K562	blood:
8	chr8:6327001..6332096-chr8:6332476..6335725,6	K562	blood:
9	chr8:6327001..6332096-chr8:6332476..6335725,6	K562	blood:
10	chr8:6350753..6353576-chr8:6355217..6356986,2	K562	blood:
11	chr8:6340740..6343384-chr8:6345418..6348031,2	K562	blood:
12	chr8:6326969..6329620-chr8:6343917..6345900,2	K562	blood:
13	chr8:6326969..6329620-chr8:6343917..6345900,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AGPAT5-3	chr8:6351645-6352063	NONHSAT124773

No data

Variant related genes	Relation type
ENSG00000253550	TF binding region
MCPH1	TF binding region
ENSG00000253550	CpG island
MCPH1	CpG island
ENSG00000147316	chromatin interactions
ENSG00000253550	chromatin interactions

Extended variants
information (count: 1987 )
Associated
traits (count: 139 )

Variant overlapped rSNPs/rCNVs (count:1987 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3020282	chr8:6328628-6328629	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs549024736	chr8:6328638-6328639	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs565631712	chr8:6328672-6328673	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs534748444	chr8:6328679-6328680	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs2442494	chr8:6328718-6328719	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs571290581	chr8:6328733-6328734	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs567260359	chr8:6328798-6328799	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs57804372	chr8:6328848-6328849	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs56073811	chr8:6328853-6328854	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs148377341	chr8:6328897-6328898	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs79522719	chr8:6328910-6328911	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs2916728	chr8:6328911-6328912	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs190678522	chr8:6328930-6328931	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs2916727	chr8:6328936-6328937	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs141498568	chr8:6328958-6328959	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs181640816	chr8:6328999-6329000	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs150881323	chr8:6329010-6329011	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs2440396	chr8:6329014-6329015	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs79412898	chr8:6329018-6329019	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs372204452	chr8:6329035-6329036	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs139589232	chr8:6329037-6329038	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs560769453	chr8:6329061-6329062	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs144268070	chr8:6329067-6329068	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs528170701	chr8:6329120-6329121	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs187607595	chr8:6329122-6329123	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs117667932	chr8:6329145-6329146	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs146104802	chr8:6329179-6329180	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs58739616	chr8:6329189-6329190	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs540163536	chr8:6329199-6329200	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs555004678	chr8:6329215-6329216	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs112318312	chr8:6329218-6329219	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs567445951	chr8:6329238-6329239	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs73196796	chr8:6329239-6329240	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs116932878	chr8:6329251-6329252	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs149773570	chr8:6329252-6329253	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs2442493	chr8:6329304-6329305	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs558644870	chr8:6329328-6329329	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs575197359	chr8:6329393-6329394	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs2515585	chr8:6329410-6329411	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs561371417	chr8:6329424-6329425	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs575014392	chr8:6329448-6329449	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs2979655	chr8:6329470-6329471	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs560450617	chr8:6329488-6329489	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs118021084	chr8:6329495-6329496	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs77705418	chr8:6329499-6329500	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs73661753	chr8:6329505-6329506	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs2920656	chr8:6329510-6329511	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs530670336	chr8:6329558-6329559	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs2442492	chr8:6329561-6329562	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs2442491	chr8:6329579-6329580	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:139)

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
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	21364760	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Cancer	20164919	CNVD
Medulloblastoma	16783165	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Autism	20531469	CNVD
Tetralogy of Fallot	22912587	CNVD
Chordoma	21215367	CNVD

Chromatin state (count:724 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6265000-6339200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr8:6287600-6344400	Weak transcription	Small Intestine	intestine
3	chr8:6301000-6338400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr8:6302800-6339800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr8:6303000-6338200	Weak transcription	Gastric	stomach
6	chr8:6303000-6338200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr8:6303000-6338400	Weak transcription	Colonic Mucosa	Colon
8	chr8:6303000-6338400	Weak transcription	Right Ventricle	heart
9	chr8:6303000-6339400	Weak transcription	Placenta	Placenta
10	chr8:6303200-6339400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr8:6303200-6339400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr8:6303200-6340000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr8:6303800-6338400	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr8:6304000-6338000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr8:6304400-6360200	Weak transcription	Esophagus	oesophagus
16	chr8:6308000-6330000	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr8:6308000-6338400	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr8:6308000-6372600	Weak transcription	HMEC	breast
19	chr8:6312200-6338200	Weak transcription	Liver	Liver
20	chr8:6313200-6338400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr8:6314400-6338200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr8:6314400-6339600	Weak transcription	Brain Angular Gyrus	brain
23	chr8:6316400-6345600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr8:6317600-6338400	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr8:6317800-6380200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr8:6318000-6338200	Weak transcription	Adipose Nuclei	Adipose
27	chr8:6318400-6339600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr8:6318600-6339600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr8:6318800-6334800	Weak transcription	NHDF-Ad	bronchial
30	chr8:6318800-6338400	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr8:6319600-6338200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr8:6320600-6328800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr8:6321400-6334600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr8:6321400-6334600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr8:6321600-6339000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr8:6321800-6334600	Weak transcription	NH-A	brain
37	chr8:6321800-6338200	Weak transcription	Brain Substantia Nigra	brain
38	chr8:6321800-6338400	Weak transcription	Brain Anterior Caudate	brain
39	chr8:6321800-6342000	Weak transcription	Aorta	Aorta
40	chr8:6321800-6343800	Weak transcription	Hela-S3	cervix
41	chr8:6322000-6338200	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr8:6322000-6340000	Weak transcription	Brain Cingulate Gyrus	brain
43	chr8:6322000-6346800	Weak transcription	Colon Smooth Muscle	Colon
44	chr8:6322200-6332600	Weak transcription	Brain Hippocampus Middle	brain
45	chr8:6322200-6334600	Weak transcription	HSMM	muscle
46	chr8:6322200-6338200	Weak transcription	Left Ventricle	heart
47	chr8:6322200-6338200	Weak transcription	HSMMtube	muscle
48	chr8:6322200-6339800	Weak transcription	Psoas Muscle	Psoas
49	chr8:6322800-6334600	Weak transcription	HUVEC	blood vessel
50	chr8:6323000-6338400	Weak transcription	Skeletal Muscle Female	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links