Variant report

Variant	esv3392540
Chromosome Location	chr10:1787152-1791350
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:1789176..1791609-chr10:1792507..1794302,2	MCF-7	breast:
2	chr10:1777801..1780416-chr10:1787662..1790686,3	MCF-7	breast:
3	chr10:1782064..1784084-chr10:1787350..1789291,2	K562	blood:

Variant related genes	Relation type
ENSG00000185736	chromatin interactions

Extended variants
information (count: 195 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:195 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140670948	chr10:1787191-1787192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs143000616	chr10:1787204-1787205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563213481	chr10:1787231-1787232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575356551	chr10:1787267-1787268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371966889	chr10:1787306-1787307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537100110	chr10:1787321-1787322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs147482384	chr10:1787328-1787329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573836527	chr10:1787399-1787400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148544114	chr10:1787428-1787429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539804702	chr10:1787491-1787492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572127212	chr10:1787503-1787504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs181299193	chr10:1787523-1787524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545389579	chr10:1787532-1787533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs565431881	chr10:1787539-1787540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540437003	chr10:1787542-1787543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531127203	chr10:1787592-1787593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185681484	chr10:1787608-1787609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs73590628	chr10:1787634-1787635	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs142914521	chr10:1787635-1787636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs151096645	chr10:1787684-1787685	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs566358080	chr10:1787702-1787703	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs538884603	chr10:1787724-1787725	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs58290583	chr10:1787728-1787729	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs77923996	chr10:1787739-1787740	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs537639970	chr10:1787743-1787744	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs12414576	chr10:1787776-1787777	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs573769106	chr10:1787824-1787825	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs190485061	chr10:1787843-1787844	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs368520929	chr10:1787844-1787845	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs553292389	chr10:1787897-1787898	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs564964879	chr10:1787911-1787912	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs74875275	chr10:1787952-1787953	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs545433224	chr10:1787964-1787965	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs565432828	chr10:1787983-1787984	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs576044200	chr10:1788025-1788026	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs555254045	chr10:1788033-1788034	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs139902325	chr10:1788044-1788045	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs371956779	chr10:1788052-1788053	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs540325395	chr10:1788155-1788156	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs561485717	chr10:1788158-1788159	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs529778722	chr10:1788213-1788214	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs539959819	chr10:1788228-1788229	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs59719653	chr10:1788349-1788350	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs17156880	chr10:1788362-1788363	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs552190701	chr10:1788379-1788380	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs568794767	chr10:1788397-1788398	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs192037709	chr10:1788398-1788399	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs547947017	chr10:1788399-1788400	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs375528605	chr10:1788400-1788401	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs182678128	chr10:1788401-1788402	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

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

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:1787000-1796600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr10:1788200-1788400	Enhancers	Pancreas	Pancrea
3	chr10:1788400-1788800	Weak transcription	Pancreas	Pancrea
4	chr10:1789000-1789200	Bivalent/Poised TSS	Fetal Brain Male	brain
5	chr10:1789000-1789400	ZNF genes & repeats	Pancreas	Pancrea
6	chr10:1789200-1789600	ZNF genes & repeats	Esophagus	oesophagus
7	chr10:1789400-1791000	Enhancers	GM12878-XiMat	blood

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