Variant report

Variant	nsv433508
Chromosome Location	chr10:1687171-1693445
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:1690142..1692322-chr10:1697982..1699711,2	K562	blood:
2	chr10:1689196..1692080-chr10:1692217..1694717,3	K562	blood:
3	chr10:1679127..1681890-chr10:1687664..1689478,2	MCF-7	breast:
4	chr10:1689196..1692080-chr10:1692217..1694717,3	K562	blood:
5	chr10:1684525..1686367-chr10:1690935..1693043,2	K562	blood:

Extended variants
information (count: 349 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:349 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10751811	chr10:1687171-1687172	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs537708477	chr10:1687189-1687190	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs373435121	chr10:1687193-1687194	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs530476575	chr10:1687202-1687203	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557364239	chr10:1687225-1687226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs377431378	chr10:1687234-1687235	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs368852643	chr10:1687252-1687253	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs386739879	chr10:1687261-1687262	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373096857	chr10:1687263-1687264	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs148303672	chr10:1687266-1687267	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572967492	chr10:1687272-1687273	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550596907	chr10:1687276-1687277	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565292233	chr10:1687339-1687340	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531246449	chr10:1687340-1687341	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544571922	chr10:1687359-1687360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs116825354	chr10:1687382-1687383	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140484965	chr10:1687383-1687384	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs150424200	chr10:1687408-1687409	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs566591201	chr10:1687409-1687410	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs138237833	chr10:1687441-1687442	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs189258442	chr10:1687442-1687443	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs11250696	chr10:1687505-1687506	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs538186049	chr10:1687515-1687516	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs2133475	chr10:1687534-1687535	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs567688033	chr10:1687536-1687537	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs72766738	chr10:1687543-1687544	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs552921007	chr10:1687559-1687560	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs573007138	chr10:1687563-1687564	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs186743084	chr10:1687570-1687571	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs190059361	chr10:1687583-1687584	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs575747898	chr10:1687605-1687606	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544922126	chr10:1687620-1687621	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561437605	chr10:1687643-1687644	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530387625	chr10:1687644-1687645	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370870517	chr10:1687685-1687686	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540233822	chr10:1687694-1687695	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560149409	chr10:1687711-1687712	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532285712	chr10:1687728-1687729	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564928988	chr10:1687742-1687743	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147311934	chr10:1687772-1687773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530632772	chr10:1687797-1687798	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2173524	chr10:1687799-1687800	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs139300466	chr10:1687813-1687814	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181313236	chr10:1687829-1687830	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570534488	chr10:1687840-1687841	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533791452	chr10:1687882-1687883	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs552961687	chr10:1687906-1687907	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186373643	chr10:1687912-1687913	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs36000779	chr10:1687973-1687974	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs72240193	chr10:1687974-1687975	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Breast cancer	20409316	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Breast cancer	17133270	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Cancer	21129771	CNVD
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	17363583	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Autism	22543975	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:1674800-1695200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr10:1686000-1687400	Enhancers	Fetal Brain Male	brain
3	chr10:1686200-1690400	Weak transcription	GM12878-XiMat	blood
4	chr10:1686600-1687200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
5	chr10:1686600-1687600	Enhancers	Brain Hippocampus Middle	brain
6	chr10:1686600-1688800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr10:1687000-1688000	Weak transcription	Brain Substantia Nigra	brain
8	chr10:1687000-1691200	Weak transcription	Brain Germinal Matrix	brain
9	chr10:1687200-1687600	Enhancers	Spleen	Spleen
10	chr10:1687200-1688400	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr10:1687200-1689200	Enhancers	Brain Angular Gyrus	brain
12	chr10:1687400-1687600	Bivalent Enhancer	Brain Cingulate Gyrus	brain
13	chr10:1687600-1688000	Weak transcription	Brain Hippocampus Middle	brain
14	chr10:1687600-1689400	Enhancers	Brain Cingulate Gyrus	brain
15	chr10:1688000-1688400	Enhancers	Brain Hippocampus Middle	brain
16	chr10:1688000-1689200	Enhancers	Brain Substantia Nigra	brain
17	chr10:1688800-1689200	Bivalent Enhancer	Brain Anterior Caudate	brain
18	chr10:1688800-1697200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr10:1689200-1700000	Weak transcription	Brain Substantia Nigra	brain
20	chr10:1689600-1689800	Bivalent Enhancer	Fetal Brain Male	brain
21	chr10:1690400-1691400	Enhancers	GM12878-XiMat	blood
22	chr10:1691200-1691400	Enhancers	Brain Germinal Matrix	brain
23	chr10:1691400-1697000	Weak transcription	GM12878-XiMat	blood
24	chr10:1693000-1694400	Enhancers	Brain Germinal Matrix	brain
25	chr10:1693400-1693600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr10:1693400-1693600	Enhancers	Brain Cingulate Gyrus	brain
27	chr10:1693400-1694800	Enhancers	Fetal Brain Male	brain

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