Variant report

Variant	nsv8820
Chromosome Location	chr11:49391545-49401766
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 351 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:351 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539690330	chr11:49391587-49391588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs34432203	chr11:49391608-49391609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556200034	chr11:49391653-49391654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs545323170	chr11:49391694-49391695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs16914231	chr11:49391695-49391696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs150525607	chr11:49391727-49391728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555373514	chr11:49391732-49391733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369980312	chr11:49391735-49391736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190462162	chr11:49391754-49391755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541286481	chr11:49391775-49391776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557807690	chr11:49391802-49391803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577765174	chr11:49391821-49391822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182177536	chr11:49391826-49391827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530746137	chr11:49391838-49391839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112900267	chr11:49391899-49391900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs139517957	chr11:49391907-49391908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531660765	chr11:49391908-49391909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541943269	chr11:49391912-49391913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184350704	chr11:49391913-49391914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113458914	chr11:49391914-49391915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs527691273	chr11:49391949-49391950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548063286	chr11:49391981-49391982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571083495	chr11:49392042-49392043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566161344	chr11:49392123-49392124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533552909	chr11:49392133-49392134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs149659614	chr11:49392169-49392170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs147776179	chr11:49392173-49392174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535495312	chr11:49392245-49392246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550373681	chr11:49392255-49392256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565669515	chr11:49392292-49392293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534652517	chr11:49392325-49392326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558010166	chr11:49392330-49392331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561065670	chr11:49392385-49392386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553295159	chr11:49392398-49392399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12805652	chr11:49392415-49392416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529640348	chr11:49392433-49392434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12805663	chr11:49392434-49392435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577894937	chr11:49392437-49392438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189292519	chr11:49392476-49392477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12807224	chr11:49392512-49392513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12806184	chr11:49392538-49392539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556851593	chr11:49392550-49392551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12807249	chr11:49392552-49392553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12807251	chr11:49392558-49392559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs573506361	chr11:49392593-49392594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541883629	chr11:49392607-49392608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546230601	chr11:49392666-49392667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs377626584	chr11:49392743-49392744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs118094133	chr11:49392747-49392748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538906539	chr11:49392753-49392754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

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
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22581003	CNVD
Breast cancer	21990379	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:49390200-49395000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:49390600-49399400	Weak transcription	Liver	Liver
3	chr11:49394000-49394200	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr11:49394200-49395600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr11:49394200-49395600	Enhancers	Fetal Heart	heart
6	chr11:49395000-49395800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr11:49395600-49396000	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr11:49395600-49396000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr11:49395600-49396000	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr11:49395600-49396000	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr11:49396000-49399600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr11:49399400-49399600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr11:49399400-49399800	Enhancers	Liver	Liver
14	chr11:49399400-49400000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr11:49399600-49399800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr11:49399600-49400000	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr11:49399800-49404800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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