Variant report

Variant	nsv437423
Chromosome Location	chr4:125705944-125707773
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	chr4:125632846..125636211-chr4:125706157..125708453,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151458	chromatin interactions

Extended variants
information (count: 84 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2174623	chr4:125705944-125705945	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs6838625	chr4:125705978-125705979	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs534937447	chr4:125706020-125706021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs138495920	chr4:125706030-125706031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs543888762	chr4:125706037-125706038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs141928940	chr4:125706055-125706056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs545731953	chr4:125706083-125706084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs150644698	chr4:125706088-125706089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs563929548	chr4:125706104-125706105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs575950195	chr4:125706105-125706106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs564138304	chr4:125706109-125706110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs376757466	chr4:125706110-125706111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543404370	chr4:125706117-125706118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs561674298	chr4:125706118-125706119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs528967777	chr4:125706157-125706158	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs532941975	chr4:125706165-125706166	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs112509127	chr4:125706189-125706190	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs181426814	chr4:125706197-125706198	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs547358211	chr4:125706210-125706211	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs28492009	chr4:125706275-125706276	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs532931455	chr4:125706321-125706322	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs6816273	chr4:125706352-125706353	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs72683806	chr4:125706401-125706402	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs10518449	chr4:125706437-125706438	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs549341731	chr4:125706445-125706446	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs974268	chr4:125706458-125706459	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs72912797	chr4:125706469-125706470	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs553469125	chr4:125706481-125706482	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs578224069	chr4:125706508-125706509	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs186490167	chr4:125706523-125706524	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs6816659	chr4:125706537-125706538	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs139731305	chr4:125706550-125706551	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs368304875	chr4:125706587-125706588	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs549592782	chr4:125706598-125706599	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs28456115	chr4:125706647-125706648	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs376020322	chr4:125706648-125706649	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs561703753	chr4:125706681-125706682	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs573529572	chr4:125706710-125706711	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs538526774	chr4:125706715-125706716	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs72683808	chr4:125706773-125706774	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs190011968	chr4:125706780-125706781	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs551149746	chr4:125706817-125706818	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs571345435	chr4:125706894-125706895	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs533926086	chr4:125706898-125706899	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs7687072	chr4:125706911-125706912	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs539031037	chr4:125706955-125706956	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs116026274	chr4:125706994-125706995	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs114640107	chr4:125707067-125707068	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs76722685	chr4:125707071-125707072	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs149773349	chr4:125707087-125707088	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Myelodysplastic syndrome	21251322	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
Colorectal cancer	20459617	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
Developmental delay	21147756	CNVD
Renal cell carcinoma	18765545	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myelofibrosis	22110671	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute promyelocytic leukemia	19109227	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:125705400-125706400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr4:125706400-125707800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr4:125707400-125707800	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr4:125707600-125708400	Enhancers	iPS-15b Cell Line	embryonic stem cell

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