Variant report

Variant	esv2762460
Chromosome Location	chr4:130067546-130074947
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:130071377..130073525-chr4:130073844..130076001,2	MCF-7	breast:
2	chr4:130012024..130014781-chr4:130073486..130075302,2	K562	blood:
3	chr4:130071377..130073525-chr4:130073844..130076001,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151470	chromatin interactions
ENSG00000151466	chromatin interactions

Extended variants
information (count: 73 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537350784	chr4:130067650-130067651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs147227675	chr4:130067652-130067653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs551235697	chr4:130067665-130067666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs557262292	chr4:130067666-130067667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs569384125	chr4:130067667-130067668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs397880595	chr4:130067675-130067676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs536851776	chr4:130067706-130067707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182052860	chr4:130067747-130067748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs139850622	chr4:130067822-130067823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533831468	chr4:130067834-130067835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs11098998	chr4:130073499-130073500	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs569849640	chr4:130073503-130073504	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs138627101	chr4:130073520-130073521	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs374897308	chr4:130073558-130073559	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs114758805	chr4:130073564-130073565	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs368072450	chr4:130073565-130073566	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs78834444	chr4:130073576-130073577	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs75061985	chr4:130073578-130073579	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs77267686	chr4:130073579-130073580	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs11098999	chr4:130073582-130073583	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs528350159	chr4:130073610-130073611	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs540060637	chr4:130073623-130073624	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs557325271	chr4:130073627-130073628	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs149326551	chr4:130073645-130073646	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs560610525	chr4:130073696-130073697	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs533310214	chr4:130073758-130073759	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs551828077	chr4:130073767-130073768	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs144203595	chr4:130073871-130073872	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs187697923	chr4:130073914-130073915	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs527717603	chr4:130073923-130073924	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs567621524	chr4:130073926-130073927	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs12498470	chr4:130073935-130073936	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs535318795	chr4:130073975-130073976	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs553338240	chr4:130073981-130073982	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs571791239	chr4:130073982-130073983	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs538390579	chr4:130073997-130073998	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs557110185	chr4:130074001-130074002	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs192763400	chr4:130074003-130074004	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs542651179	chr4:130074024-130074025	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs114243259	chr4:130074049-130074050	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs573212331	chr4:130074082-130074083	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs540514466	chr4:130074101-130074102	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs564959276	chr4:130074106-130074107	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs562997658	chr4:130074107-130074108	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs148730369	chr4:130074113-130074114	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs141464822	chr4:130074147-130074148	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs553750014	chr4:130074171-130074172	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs114588890	chr4:130074192-130074193	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs113579180	chr4:130074220-130074221	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs73848943	chr4:130074251-130074252	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:81)

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
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
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
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Schizophrenia	20967226	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:130067200-130068000	Enhancers	K562	blood
2	chr4:130074800-130075000	Enhancers	Aorta	Aorta

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