Variant report

Variant	nsv437427
Chromosome Location	chr4:131162995-131178467
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:131162135..131163793-chr4:131168250..131170399,2	K562	blood:
2	chr4:131162293..131164419-chr4:131168250..131170344,2	K562	blood:
3	chr13:97378483..97379144-chr4:131166728..131167230,2	MCF-7	breast:
4	chr4:131162135..131163793-chr4:131168250..131170399,2	K562	blood:
5	chr4:131162293..131164419-chr4:131168250..131170344,2	K562	blood:

Extended variants
information (count: 507 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:507 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10028531	chr4:131162995-131162996	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs574451786	chr4:131162996-131162997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs151262725	chr4:131163015-131163016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs115208616	chr4:131163037-131163038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376663214	chr4:131163054-131163055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200684548	chr4:131163056-131163057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181210399	chr4:131163074-131163075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10028608	chr4:131163109-131163110	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs560613676	chr4:131163126-131163127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559939187	chr4:131163151-131163152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528035864	chr4:131163165-131163166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552447788	chr4:131163182-131163183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572851687	chr4:131163183-131163184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369002203	chr4:131163237-131163238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531676144	chr4:131163275-131163276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549884269	chr4:131163276-131163277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568241536	chr4:131163292-131163293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs55686514	chr4:131163357-131163358	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs397947077	chr4:131163425-131163426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561772550	chr4:131163468-131163469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs60769029	chr4:131163476-131163477	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs74696714	chr4:131163533-131163534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557637209	chr4:131163540-131163541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs35571910	chr4:131163542-131163543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs147080209	chr4:131163583-131163584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537273114	chr4:131163607-131163608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186261154	chr4:131163627-131163628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573822719	chr4:131163641-131163642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs77738866	chr4:131163671-131163672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572610138	chr4:131163674-131163675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371822345	chr4:131163701-131163702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs60152202	chr4:131163716-131163717	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs564492713	chr4:131163787-131163788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190446894	chr4:131163798-131163799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533289936	chr4:131163877-131163878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549994830	chr4:131163908-131163909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561833889	chr4:131163921-131163922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529390577	chr4:131163944-131163945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183396203	chr4:131163945-131163946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546468857	chr4:131163999-131164000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539328087	chr4:131164004-131164005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551633996	chr4:131164012-131164013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566704706	chr4:131164040-131164041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569886614	chr4:131164063-131164064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373766306	chr4:131164064-131164065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555647195	chr4:131164130-131164131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538001964	chr4:131164133-131164134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573732010	chr4:131164139-131164140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs74579473	chr4:131164144-131164145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188906275	chr4:131164182-131164183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Mental retardation	17847001	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:131161600-131166600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:131166600-131167800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:131169600-131170400	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr4:131169800-131170400	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr4:131169800-131170800	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr4:131170200-131170600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr4:131172000-131172600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr4:131172600-131178200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr4:131177800-131180600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr4:131178200-131179000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr4:131178200-131179000	Enhancers	Muscle Satellite Cultured Cells	--
12	chr4:131178200-131179000	Enhancers	NHDF-Ad	bronchial
13	chr4:131178200-131179200	Enhancers	NHEK	skin
14	chr4:131178200-131179400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr4:131178400-131179000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr4:131178400-131179000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr4:131178400-131179000	Enhancers	HUVEC	blood vessel
18	chr4:131178400-131179000	Enhancers	NH-A	brain
19	chr4:131178400-131179200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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