Variant report

Variant	esv3375679
Chromosome Location	chr10:83202021-83242521
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	chr10:83240127..83242125-chr10:83244637..83246199,2	MCF-7	breast:
2	chr10:83215519..83216361-chr16:146667..147520,2	MCF-7	breast:

Extended variants
information (count: 141 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:141 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538669335	chr10:83204046-83204047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs148798279	chr10:83204084-83204085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs557212129	chr10:83204088-83204089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs11813825	chr10:83204099-83204100	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs542949703	chr10:83204106-83204107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs559074673	chr10:83204188-83204189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs548494361	chr10:83204206-83204207	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs528134085	chr10:83204209-83204210	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs183932230	chr10:83204316-83204317	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs565024095	chr10:83204332-83204333	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs544545295	chr10:83204342-83204343	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs188983962	chr10:83204355-83204356	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs554727988	chr10:83204362-83204363	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs549933622	chr10:83204373-83204374	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs569918380	chr10:83204409-83204410	Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs56339756	chr10:83204426-83204427	Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs549691456	chr10:83204436-83204437	Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs55641847	chr10:83204452-83204453	Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs559198105	chr10:83204458-83204459	Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs528048440	chr10:83204503-83204504	Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs144885886	chr10:83204586-83204587	Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs557955975	chr10:83204637-83204638	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs147935953	chr10:83204642-83204643	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs537566464	chr10:83204643-83204644	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs141727826	chr10:83204651-83204652	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs147071033	chr10:83204782-83204783	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs1329190	chr10:83204861-83204862	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs11815555	chr10:83204890-83204891	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs200478823	chr10:83204918-83204919	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs570256677	chr10:83204961-83204962	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs68025171	chr10:83204965-83204966	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs77178285	chr10:83204988-83204989	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs192954404	chr10:83204992-83204993	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs537982512	chr10:83210665-83210666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs197775	chr10:83210669-83210670	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
36	rs544741076	chr10:83210684-83210685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs142306514	chr10:83210715-83210716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs112952160	chr10:83210725-83210726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs554051757	chr10:83210742-83210743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs576589488	chr10:83210743-83210744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs533395721	chr10:83210752-83210753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs140490497	chr10:83210792-83210793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs73303757	chr10:83210795-83210796	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs529563845	chr10:83210830-83210831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs549331401	chr10:83210872-83210873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs565954463	chr10:83210880-83210881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs374311757	chr10:83210890-83210891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs148657329	chr10:83231847-83231848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs79087185	chr10:83231900-83231901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs75961686	chr10:83231901-83231902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Thoracic aortic aneurysm	21092924	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
High-grade prostatic intraepithelial neoplasia	16573809	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
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	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
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:83204000-83204400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr10:83204200-83204600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr10:83204400-83204600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr10:83204600-83205000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr10:83210600-83211000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr10:83231800-83234200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr10:83232200-83233600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr10:83232600-83233000	Enhancers	H1 Cell Line	embryonic stem cell
9	chr10:83232600-83233800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
10	chr10:83233200-83233800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr10:83241800-83242000	Enhancers	Brain Germinal Matrix	brain

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