Variant report

Variant	nsv975917
Chromosome Location	chr11:50134099-50150149
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 722 )
Associated
traits (count: 46 )

Variant overlapped rSNPs/rCNVs (count:722 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12799801	chr11:50134116-50134117	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs145363875	chr11:50134129-50134130	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs148757564	chr11:50134151-50134152	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs1995043	chr11:50134166-50134167	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs200708814	chr11:50134168-50134169	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs182861567	chr11:50134175-50134176	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs112740601	chr11:50134180-50134181	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs543676805	chr11:50134192-50134193	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs570346978	chr11:50134242-50134243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs557266805	chr11:50134266-50134267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs61893389	chr11:50134278-50134279	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs372653535	chr11:50134286-50134287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs79423078	chr11:50134313-50134314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs375622673	chr11:50134318-50134319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs559583554	chr11:50134378-50134379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs142353118	chr11:50134380-50134381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs146828732	chr11:50134381-50134382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs371009682	chr11:50134401-50134402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs576041361	chr11:50134414-50134415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs140607523	chr11:50134433-50134434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs541466870	chr11:50134461-50134462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs186631367	chr11:50134470-50134471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs145652315	chr11:50134475-50134476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs372345588	chr11:50134505-50134506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs116846466	chr11:50134508-50134509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs79417828	chr11:50134514-50134515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs202054041	chr11:50134516-50134517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs538702238	chr11:50134529-50134530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs376238105	chr11:50134566-50134567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs190302826	chr11:50134577-50134578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs537276057	chr11:50134582-50134583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs557230102	chr11:50134606-50134607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs182567859	chr11:50134643-50134644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs4881696	chr11:50134677-50134678	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs553284193	chr11:50134684-50134685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs573178415	chr11:50134690-50134691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs187110191	chr11:50134703-50134704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs376634753	chr11:50134706-50134707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs530699238	chr11:50134746-50134747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs544464604	chr11:50134749-50134750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs561154764	chr11:50134786-50134787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs529971369	chr11:50134787-50134788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs374737755	chr11:50134813-50134814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs546601825	chr11:50134822-50134823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs566432544	chr11:50134856-50134857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs193196132	chr11:50134876-50134877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs140893021	chr11:50134898-50134899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs185160461	chr11:50134915-50134916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs369028407	chr11:50134918-50134919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs11245897	chr11:50134926-50134927	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:46)

Disease	PMID	Source
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Renal cell carcinoma	18194544	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Mortal	21835882	CNVD
Autism	22495309	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:50133200-50134200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr11:50133200-50134400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr11:50133200-50134400	Enhancers	Adipose Nuclei	Adipose
4	chr11:50134000-50134400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr11:50134000-50135000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr11:50134200-50134400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr11:50134400-50140400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr11:50134400-50146200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr11:50136600-50136800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
10	chr11:50140400-50142200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr11:50140400-50142600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr11:50141800-50142000	Weak transcription	Adipose Nuclei	Adipose
13	chr11:50142000-50142200	Enhancers	Adipose Nuclei	Adipose
14	chr11:50142200-50144600	Weak transcription	Adipose Nuclei	Adipose
15	chr11:50142200-50145600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr11:50142600-50147000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr11:50144600-50147200	Enhancers	Adipose Nuclei	Adipose
18	chr11:50145600-50146000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr11:50145800-50147400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr11:50146000-50147000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr11:50146200-50147400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr11:50147000-50147400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr11:50147000-50147600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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