Variant report

Variant	nsv971316
Chromosome Location	chr8:64320976-64322897
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	chr8:64321036-64321329	K562	blood:	n/a	n/a
2	FAM48A	chr8:64321153-64321337	GM12878	blood:	n/a	n/a
3	JUN	chr8:64320964-64321316	HepG2	liver:	n/a	chr8:64321134-64321143 chr8:64321133-64321146
4	JUND	chr8:64320948-64321323	HepG2	liver:	n/a	chr8:64321134-64321143
5	JUND	chr8:64320821-64321473	SK-N-SH	brain:	n/a	chr8:64321134-64321143
6	MAZ	chr8:64321563-64321579	HepG2	liver:	n/a	n/a
7	POLR2A	chr8:64321832-64321848	A549	lung:	n/a	n/a
8	POLR2A	chr8:64321861-64321946	A549	lung:	n/a	n/a
9	POLR2A	chr8:64321792-64321815	MCF-7	breast:	n/a	n/a
10	POLR2A	chr8:64321742-64321815	A549	lung:	n/a	n/a
11	POLR2A	chr8:64321937-64322022	Gliobla	brain:	n/a	n/a
12	POLR2A	chr8:64321048-64321054	MCF10A-Er-Src	breast:	n/a	n/a
13	STAT3	chr8:64321319-64321519	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
IFITM8P	TF binding region

Extended variants
information (count: 87 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542277623	chr8:64320986-64320987	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs564052858	chr8:64320998-64320999	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs562053918	chr8:64321006-64321007	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs575735346	chr8:64321036-64321037	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs546016761	chr8:64321038-64321039	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs4739090	chr8:64321053-64321054	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs528189282	chr8:64321102-64321103	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs201126907	chr8:64321139-64321140	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs370130831	chr8:64321165-64321166	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs146693606	chr8:64321176-64321177	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs183246594	chr8:64321183-64321184	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs528928444	chr8:64321186-64321187	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs372595600	chr8:64321188-64321189	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs376398146	chr8:64321192-64321193	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs139242854	chr8:64321234-64321235	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs569165809	chr8:64321261-64321262	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs7006972	chr8:64321314-64321315	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs551622274	chr8:64321341-64321342	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs186430659	chr8:64321343-64321344	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs117973011	chr8:64321371-64321372	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs192471500	chr8:64321394-64321395	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs59111179	chr8:64321421-64321422	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs149873987	chr8:64321491-64321492	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs531340665	chr8:64321511-64321512	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs555180118	chr8:64321527-64321528	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183368309	chr8:64321555-64321556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188777836	chr8:64321593-64321594	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564350246	chr8:64321595-64321596	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs75515076	chr8:64321634-64321635	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201259529	chr8:64321643-64321644	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs199590813	chr8:64321664-64321665	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541842149	chr8:64321665-64321666	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528865676	chr8:64321674-64321675	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs80220009	chr8:64321675-64321676	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550576981	chr8:64321697-64321698	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs11782289	chr8:64321723-64321724	Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs549831970	chr8:64321724-64321725	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192618137	chr8:64321743-64321744	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs117085103	chr8:64321746-64321747	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs61747580	chr8:64321751-64321752	Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs200688209	chr8:64321759-64321760	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534021211	chr8:64321796-64321797	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182589696	chr8:64321797-64321798	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568570150	chr8:64321805-64321806	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs535454730	chr8:64321823-64321824	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs144907843	chr8:64321831-64321832	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575807943	chr8:64321875-64321876	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs10957284	chr8:64321899-64321900	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs186512749	chr8:64321977-64321978	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs573091102	chr8:64322015-64322016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
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
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	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
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	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
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
Salivary gland tumor	18059337	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
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Melanoma	22183965	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Sezary syndrome	18413736	CNVD
Colorectal cancer	21645411	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:64315200-64323200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr8:64320800-64321600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:64321600-64321800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:64321800-64322000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:64322000-64337000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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