Variant report

Variant	nsv968077
Chromosome Location	chr5:11960803-11967409
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	chr5:11957297..11959907-chr5:11964344..11966924,2	K562	blood:

Extended variants
information (count: 150 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:150 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142662363	chr5:11961414-11961415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs369804065	chr5:11961421-11961422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs573537153	chr5:11961422-11961423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs541118316	chr5:11961432-11961433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs373473940	chr5:11961449-11961450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs149172388	chr5:11961473-11961474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs559467814	chr5:11961498-11961499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs11957201	chr5:11961507-11961508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs146355094	chr5:11961515-11961516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs563547545	chr5:11961565-11961566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs180810791	chr5:11961571-11961572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs111976118	chr5:11961831-11961832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs547508598	chr5:11961832-11961833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs184965032	chr5:11961851-11961852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs539167192	chr5:11961872-11961873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs539278508	chr5:11961896-11961897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs113830891	chr5:11961899-11961900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs183094055	chr5:11961912-11961913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs537339051	chr5:11961944-11961945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs555284430	chr5:11962001-11962002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs185876938	chr5:11962011-11962012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs143007015	chr5:11962106-11962107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs143683566	chr5:11962113-11962114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs370188098	chr5:11962128-11962129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs199799319	chr5:11962150-11962151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs374944608	chr5:11962177-11962178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs546960255	chr5:11962217-11962218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs578021474	chr5:11962273-11962274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs545192480	chr5:11962282-11962283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs75265005	chr5:11962287-11962288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs191817121	chr5:11962303-11962304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs199530219	chr5:11962365-11962366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs375352390	chr5:11962367-11962368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs370970633	chr5:11962372-11962373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs200695351	chr5:11962433-11962434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs148119366	chr5:11962460-11962461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561612092	chr5:11962486-11962487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141239118	chr5:11962638-11962639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115488800	chr5:11962688-11962689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs183156857	chr5:11962702-11962703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533027064	chr5:11962745-11962746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2895608	chr5:11962749-11962750	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs569626865	chr5:11962782-11962783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560661605	chr5:11962844-11962845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536695093	chr5:11962965-11962966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188194400	chr5:11962969-11962970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs2400100	chr5:11962977-11962978	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs192424508	chr5:11963002-11963003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182356439	chr5:11963021-11963022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577789035	chr5:11963031-11963032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

Disease	PMID	Source
renal disease	17924346	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
abnormal development	18461090	CNVD
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Melanoma	22183965	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Intellectual disability	22102821	CNVD
Myelofibrosis	22110671	CNVD
Cri-du chat syndrome	16773131	CNVD
Cryptorchidism	21048976	CNVD
Glioblastoma multiforme	22286061	CNVD
Cervical cancer	16585170	CNVD
Mental retardation	16773131	CNVD
Non-small cell lung cancer	21829676	CNVD
Cri-du chat syndrome	22470819	CNVD
sporadic birth defects	19047251	CNVD
Non-small cell lung cancer	17643093	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	18940311	CNVD
Central neurocytomas	17123091	CNVD
Mental retardation	17847001	CNVD
Neurocytoma	17123091	CNVD
Mental retardation	19546859	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Williams Syndrome	20824207	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:11961400-11961600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:11961800-11962200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:11962200-11962400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:11962200-11965200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:11965200-11965400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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