Variant report

Variant	nsv982930
Chromosome Location	chr11:25236177-25250714
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	chr11:25236770..25239530-chr11:25241817..25244758,2	K562	blood:
2	chr11:25236770..25239530-chr11:25241817..25244758,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182943038	chr11:25239225-25239226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs117590137	chr11:25239258-25239259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs375087893	chr11:25239309-25239310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs570942272	chr11:25239314-25239315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs12795872	chr11:25239357-25239358	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs369152948	chr11:25239377-25239378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs556580157	chr11:25239436-25239437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs146413178	chr11:25239471-25239472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs533766656	chr11:25239556-25239557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs16913735	chr11:25239587-25239588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567169556	chr11:25239590-25239591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs575131061	chr11:25239614-25239615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs12796507	chr11:25239618-25239619	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs12796521	chr11:25239634-25239635	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs569348851	chr11:25239635-25239636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs12796527	chr11:25239644-25239645	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs555025206	chr11:25239699-25239700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs12796176	chr11:25239704-25239705	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs540221048	chr11:25239759-25239760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs553695891	chr11:25239773-25239774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs576679055	chr11:25239777-25239778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs368216834	chr11:25239784-25239785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs4300359	chr11:25239785-25239786	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs544002111	chr11:25239823-25239824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs563080045	chr11:25239874-25239875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs376117170	chr11:25239878-25239879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs531514479	chr11:25239891-25239892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs1425808	chr11:25239944-25239945	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs544449908	chr11:25239949-25239950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs140915384	chr11:25239966-25239967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs1425807	chr11:25239967-25239968	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs547372171	chr11:25239992-25239993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs567181936	chr11:25240001-25240002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs532819078	chr11:25240065-25240066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs9630145	chr11:25240090-25240091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs569378196	chr11:25240096-25240097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs116393775	chr11:25240097-25240098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs549498450	chr11:25240136-25240137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs568535470	chr11:25240173-25240174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs533933481	chr11:25240192-25240193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs185360480	chr11:25240212-25240213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs576751246	chr11:25240243-25240244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs545723287	chr11:25240244-25240245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs529866385	chr11:25240278-25240279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs556410849	chr11:25240282-25240283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs9630163	chr11:25240308-25240309	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs552563900	chr11:25240345-25240346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs542004967	chr11:25240352-25240353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs567767342	chr11:25240357-25240358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs527342629	chr11:25240381-25240382	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
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
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Renal cell carcinoma	18194544	CNVD
Myelofibrosis	22110671	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
Autism	22102821	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bipolar disorder	19114987	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:25239200-25240600	Enhancers	Fetal Heart	heart

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