Variant report

Variant	esv3437048
Chromosome Location	chr10:1687552-1691950
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 225 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:225 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552921007	chr10:1687559-1687560	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs573007138	chr10:1687563-1687564	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs186743084	chr10:1687570-1687571	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs190059361	chr10:1687583-1687584	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs575747898	chr10:1687605-1687606	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544922126	chr10:1687620-1687621	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561437605	chr10:1687643-1687644	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530387625	chr10:1687644-1687645	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370870517	chr10:1687685-1687686	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540233822	chr10:1687694-1687695	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560149409	chr10:1687711-1687712	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532285712	chr10:1687728-1687729	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564928988	chr10:1687742-1687743	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs147311934	chr10:1687772-1687773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530632772	chr10:1687797-1687798	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2173524	chr10:1687799-1687800	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs139300466	chr10:1687813-1687814	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181313236	chr10:1687829-1687830	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570534488	chr10:1687840-1687841	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533791452	chr10:1687882-1687883	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552961687	chr10:1687906-1687907	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186373643	chr10:1687912-1687913	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs36000779	chr10:1687973-1687974	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs72240193	chr10:1687974-1687975	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538797278	chr10:1687990-1687991	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189939765	chr10:1687991-1687992	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs143330188	chr10:1687992-1687993	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs572455941	chr10:1688010-1688011	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs74593297	chr10:1688047-1688048	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182197962	chr10:1688048-1688049	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs11250697	chr10:1688064-1688065	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs186551073	chr10:1688072-1688073	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560237670	chr10:1688091-1688092	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs72766739	chr10:1688111-1688112	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs11595075	chr10:1688112-1688113	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs112708933	chr10:1688136-1688137	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574158690	chr10:1688206-1688207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531409305	chr10:1688215-1688216	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542810883	chr10:1688216-1688217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs73579890	chr10:1688280-1688281	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs543076618	chr10:1688330-1688331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs527622246	chr10:1688350-1688351	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs79571593	chr10:1688351-1688352	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535161545	chr10:1688353-1688354	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs11592943	chr10:1688405-1688406	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs191012725	chr10:1688418-1688419	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs80133766	chr10:1688433-1688434	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552513900	chr10:1688457-1688458	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569253146	chr10:1688480-1688481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183857329	chr10:1688486-1688487	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:21 , 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	chr10:1686200-1690400	Weak transcription	GM12878-XiMat	blood
3	chr10:1686600-1687600	Enhancers	Brain Hippocampus Middle	brain
4	chr10:1686600-1688800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr10:1687000-1688000	Weak transcription	Brain Substantia Nigra	brain
6	chr10:1687000-1691200	Weak transcription	Brain Germinal Matrix	brain
7	chr10:1687200-1687600	Enhancers	Spleen	Spleen
8	chr10:1687200-1688400	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr10:1687200-1689200	Enhancers	Brain Angular Gyrus	brain
10	chr10:1687400-1687600	Bivalent Enhancer	Brain Cingulate Gyrus	brain
11	chr10:1687600-1688000	Weak transcription	Brain Hippocampus Middle	brain
12	chr10:1687600-1689400	Enhancers	Brain Cingulate Gyrus	brain
13	chr10:1688000-1688400	Enhancers	Brain Hippocampus Middle	brain
14	chr10:1688000-1689200	Enhancers	Brain Substantia Nigra	brain
15	chr10:1688800-1689200	Bivalent Enhancer	Brain Anterior Caudate	brain
16	chr10:1688800-1697200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr10:1689200-1700000	Weak transcription	Brain Substantia Nigra	brain
18	chr10:1689600-1689800	Bivalent Enhancer	Fetal Brain Male	brain
19	chr10:1690400-1691400	Enhancers	GM12878-XiMat	blood
20	chr10:1691200-1691400	Enhancers	Brain Germinal Matrix	brain
21	chr10:1691400-1697000	Weak transcription	GM12878-XiMat	blood

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