Variant report

Variant	esv14209
Chromosome Location	chr10:95594298-95596661
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:95596535..95599417-chr10:95653532..95655162,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000176273	chromatin interactions

Extended variants
information (count: 113 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:113 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10882348	chr10:95594308-95594309	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs138110766	chr10:95594331-95594332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182380831	chr10:95594376-95594377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568556907	chr10:95594377-95594378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201304106	chr10:95594416-95594417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374135968	chr10:95594417-95594418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs11187691	chr10:95594420-95594421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369654752	chr10:95594426-95594427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201976399	chr10:95594427-95594428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537604349	chr10:95594430-95594431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10786142	chr10:95594435-95594436	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs570776598	chr10:95594478-95594479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539068687	chr10:95594487-95594488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552531791	chr10:95594501-95594502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10882349	chr10:95594508-95594509	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs11187692	chr10:95594549-95594550	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs367918019	chr10:95594562-95594563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576250099	chr10:95594575-95594576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555585237	chr10:95594576-95594577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs56057549	chr10:95594596-95594597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs56321090	chr10:95594599-95594600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs11187693	chr10:95594613-95594614	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs11187694	chr10:95594614-95594615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564392594	chr10:95594615-95594616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577980495	chr10:95594646-95594647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546251883	chr10:95594648-95594649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs11187695	chr10:95594662-95594663	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs372574842	chr10:95594668-95594669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375607683	chr10:95594695-95594696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs35640487	chr10:95594713-95594714	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs541068334	chr10:95594746-95594747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs116815565	chr10:95594775-95594776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs35298830	chr10:95594784-95594785	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs577672730	chr10:95594789-95594790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550734753	chr10:95594795-95594796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139058972	chr10:95594841-95594842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs539730349	chr10:95594855-95594856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs546230885	chr10:95594909-95594910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs115254537	chr10:95594939-95594940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs374195839	chr10:95594997-95594998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs535384702	chr10:95595004-95595005	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543560189	chr10:95595015-95595016	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555182540	chr10:95595052-95595053	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs4919555	chr10:95595061-95595062	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs114334356	chr10:95595062-95595063	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547686877	chr10:95595072-95595073	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs11187696	chr10:95595082-95595083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs4919557	chr10:95595164-95595165	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs139653872	chr10:95595179-95595180	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560346792	chr10:95595203-95595204	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Usher syndrome	20538994	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Paraganglioma	17535989	CNVD
Submicroscopic aberration syndrome	21292638	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Colorectal cancer	18645599	CNVD
Polyposis syndrome	18645599	CNVD
Prostate cancer	17245344	CNVD
Glioblastoma multiforme	17369134	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	22032731	CNVD
Ovarian cancer	20844748	CNVD
Glioblastoma multiforme	17002787	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21364760	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Wilms tumour	21544195	CNVD
small cell lung cancer	20016488	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cervical cancer	21062161	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	24453001	CNVD
Breast cancer	16608533	CNVD
Sezary syndrome	18413736	CNVD
Intracranial aneurysm	16715129	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:95593600-95594800	Weak transcription	Pancreas	Pancrea
2	chr10:95594800-95595000	Enhancers	Pancreas	Pancrea
3	chr10:95594800-95599800	Enhancers	Fetal Intestine Large	intestine
4	chr10:95595000-95597200	Weak transcription	Pancreas	Pancrea
5	chr10:95595200-95599800	Enhancers	Fetal Intestine Small	intestine
6	chr10:95595400-95597000	Enhancers	Duodenum Mucosa	Duodenum

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