Variant report

Variant	nsv964077
Chromosome Location	chr4:99662009-99663570
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:99540036..99541915-chr4:99662055..99663703,2	K562	blood:
2	chr4:99663113..99664899-chr4:99849432..99851270,2	MCF-7	breast:
3	chr4:99661713..99664313-chr4:99850312..99852279,2	K562	blood:

Variant related genes	Relation type
ENSG00000263923	chromatin interactions
ENSG00000238449	chromatin interactions
ENSG00000151247	chromatin interactions

Extended variants
information (count: 65 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190577403	chr4:99662009-99662010	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs565195542	chr4:99662071-99662072	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs538060117	chr4:99662135-99662136	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs17507714	chr4:99662139-99662140	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs570256072	chr4:99662149-99662150	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs575055320	chr4:99662159-99662160	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs542475883	chr4:99662219-99662220	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs4699366	chr4:99662224-99662225	Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs112406810	chr4:99662313-99662314	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs17008947	chr4:99662330-99662331	Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs534824660	chr4:99662344-99662345	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs182409595	chr4:99662388-99662389	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs553308791	chr4:99662391-99662392	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs531790989	chr4:99662407-99662408	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs550522940	chr4:99662436-99662437	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs185152180	chr4:99662490-99662491	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs376159850	chr4:99662506-99662507	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs536234776	chr4:99662531-99662532	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs529832195	chr4:99662548-99662549	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs574773302	chr4:99662549-99662550	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs112019899	chr4:99662634-99662635	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs78164222	chr4:99662647-99662648	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs566649338	chr4:99662648-99662649	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs533580248	chr4:99662649-99662650	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs551716992	chr4:99662669-99662670	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs141636113	chr4:99662670-99662671	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs537521575	chr4:99662673-99662674	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs556496433	chr4:99662682-99662683	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs150471842	chr4:99662701-99662702	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs189920969	chr4:99662704-99662705	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs538866249	chr4:99662708-99662709	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs554497336	chr4:99662732-99662733	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs4317210	chr4:99662749-99662750	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs546221190	chr4:99662751-99662752	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs569091855	chr4:99662818-99662819	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs62325476	chr4:99662849-99662850	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs138329120	chr4:99662862-99662863	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs4323108	chr4:99662873-99662874	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs147296331	chr4:99662884-99662885	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs139274274	chr4:99662920-99662921	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs577378062	chr4:99662932-99662933	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs143079798	chr4:99662964-99662965	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs560027834	chr4:99662973-99662974	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs527537033	chr4:99662987-99662988	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs551780292	chr4:99662993-99662994	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs181171072	chr4:99663018-99663019	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs559287037	chr4:99663044-99663045	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs4288013	chr4:99663048-99663049	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs540776937	chr4:99663084-99663085	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs549875496	chr4:99663097-99663098	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Autism	22495311	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
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	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	chr4:99657200-99662200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:99661200-99662200	Enhancers	K562	blood
3	chr4:99662200-99662400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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