Variant report

Variant	nsv526003
Chromosome Location	chr13:93396655-93403783
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	chr13:93388404..93390575-chr13:93396600..93398379,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550110627	chr13:93397021-93397022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs187288679	chr13:93397046-93397047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs542149588	chr13:93397086-93397087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs555698568	chr13:93397106-93397107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs572573167	chr13:93397120-93397121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs551620480	chr13:93397192-93397193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs191689077	chr13:93397196-93397197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs553815120	chr13:93397257-93397258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs73623326	chr13:93397279-93397280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs545811634	chr13:93397329-93397330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs548789645	chr13:93397363-93397364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs556635956	chr13:93397369-93397370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs184596076	chr13:93397432-93397433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs80038097	chr13:93397455-93397456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs115417473	chr13:93397471-93397472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs561752601	chr13:93397580-93397581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs527468432	chr13:93397583-93397584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs541210288	chr13:93397584-93397585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs564239843	chr13:93397670-93397671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs187385244	chr13:93397686-93397687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs142837531	chr13:93397709-93397710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs552607975	chr13:93397747-93397748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs569681088	chr13:93397766-93397767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs193101908	chr13:93397800-93397801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs567439977	chr13:93397831-93397832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs549630012	chr13:93397865-93397866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs185878380	chr13:93397867-93397868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs535209677	chr13:93397897-93397898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs553632190	chr13:93397911-93397912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs572511087	chr13:93397924-93397925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs111730161	chr13:93398017-93398018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs190345389	chr13:93398028-93398029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs556208448	chr13:93398029-93398030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs576076805	chr13:93398074-93398075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs538677730	chr13:93398133-93398134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs555628322	chr13:93398155-93398156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs572195322	chr13:93398177-93398178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs541226508	chr13:93398268-93398269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs1933191	chr13:93398290-93398291	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs575530120	chr13:93398314-93398315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs200931240	chr13:93398327-93398328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs577580058	chr13:93398372-93398373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs376165650	chr13:93398375-93398376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs9561134	chr13:93398377-93398378	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Metanephric adenoma	20802469	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	CNVD
Myelofibrosis	22110671	CNVD
coloboma	21285886	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	19651601	CNVD
Effusion lymphoma	18079361	CNVD
Developmental delay	21147756	CNVD
Cancer	20164920	CNVD
Melanoma	20877625	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:93397000-93397800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr13:93397600-93398000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr13:93397800-93398400	Enhancers	HMEC	breast

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