Variant report

Variant	nsv975180
Chromosome Location	chr11:50039194-50058422
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1007 )
Associated
traits (count: 47 )

Variant overlapped rSNPs/rCNVs (count:1007 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190262285	chr11:50039211-50039212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs182395209	chr11:50039237-50039238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs574678132	chr11:50039258-50039259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs530988689	chr11:50039279-50039280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs201831370	chr11:50039358-50039359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs75388644	chr11:50039359-50039360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs28411228	chr11:50039363-50039364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs202163031	chr11:50039365-50039366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550798187	chr11:50039370-50039371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs187394240	chr11:50039406-50039407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs536550079	chr11:50039458-50039459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs191724797	chr11:50039463-50039464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs533900234	chr11:50039491-50039492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs150370720	chr11:50039505-50039506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs566288066	chr11:50039513-50039514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs145024458	chr11:50039531-50039532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs149076744	chr11:50039534-50039535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs113087310	chr11:50039540-50039541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs372280135	chr11:50039586-50039587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs375111677	chr11:50039605-50039606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs183956652	chr11:50039623-50039624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs574740277	chr11:50039669-50039670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs371587437	chr11:50039704-50039705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs144696986	chr11:50039710-50039711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs558073432	chr11:50039744-50039745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs554199140	chr11:50039774-50039775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs28560250	chr11:50039796-50039797	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs138555056	chr11:50039811-50039812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs28430465	chr11:50039832-50039833	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs189205635	chr11:50039886-50039887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs374841346	chr11:50039916-50039917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs141540656	chr11:50039945-50039946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs117728889	chr11:50040018-50040019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs561155459	chr11:50040019-50040020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs557463314	chr11:50040034-50040035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs376614794	chr11:50040041-50040042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs530291992	chr11:50040047-50040048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs547000293	chr11:50040060-50040061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs567180552	chr11:50040082-50040083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs574160623	chr11:50040091-50040092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs193061800	chr11:50040092-50040093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs552580120	chr11:50040106-50040107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs569372781	chr11:50040138-50040139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs183968129	chr11:50040142-50040143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs28417656	chr11:50040152-50040153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs72920451	chr11:50040153-50040154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs377746771	chr11:50040154-50040155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs71455954	chr11:50040155-50040156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs145553208	chr11:50040158-50040159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs142874265	chr11:50040166-50040167	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:47)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Autism	22495309	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:50039200-50040600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr11:50040600-50049200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr11:50047400-50047600	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr11:50049200-50049600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr11:50049600-50054400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr11:50054400-50058600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr11:50056000-50056400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr11:50057400-50058000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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