Variant report

Variant	nsv435810
Chromosome Location	chr4:91453943-91458066
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	chr4:91048483..91050234-chr4:91455685..91457899,2	MCF-7	breast:
2	chr4:91440965..91443804-chr4:91452730..91455002,2	K562	blood:

Variant related genes	Relation type
ENSG00000184305	chromatin interactions

Extended variants
information (count: 89 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564907970	chr4:91455709-91455710	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs527268005	chr4:91455731-91455732	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs547561422	chr4:91455751-91455752	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs570438139	chr4:91455758-91455759	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs534568629	chr4:91455764-91455765	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs13105972	chr4:91455784-91455785	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs144002952	chr4:91455797-91455798	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs550614030	chr4:91455850-91455851	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs529910158	chr4:91455867-91455868	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs371942116	chr4:91455973-91455974	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs549676039	chr4:91456018-91456019	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs150926616	chr4:91456051-91456052	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs538586770	chr4:91456066-91456067	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs558416965	chr4:91456072-91456073	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs568192542	chr4:91456108-91456109	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs78070493	chr4:91456140-91456141	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs368374450	chr4:91456244-91456245	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs534695781	chr4:91456252-91456253	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs187810289	chr4:91456253-91456254	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs140889663	chr4:91456311-91456312	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs538025443	chr4:91456332-91456333	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs149738814	chr4:91456340-91456341	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs368521138	chr4:91456528-91456529	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs190773077	chr4:91456544-91456545	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs114835191	chr4:91456584-91456585	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs373983043	chr4:91456587-91456588	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs145568169	chr4:91456605-91456606	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs557158104	chr4:91456606-91456607	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs573506006	chr4:91456613-91456614	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs527285052	chr4:91456619-91456620	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs540988000	chr4:91456661-91456662	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs183155678	chr4:91456681-91456682	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs112478222	chr4:91456722-91456723	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs549826372	chr4:91456724-91456725	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs11936144	chr4:91456752-91456753	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs539720881	chr4:91456826-91456827	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs186773614	chr4:91456844-91456845	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs192276655	chr4:91456859-91456860	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs146981701	chr4:91456956-91456957	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs112450622	chr4:91456962-91456963	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs139191708	chr4:91457032-91457033	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs540891066	chr4:91457095-91457096	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs187790838	chr4:91457098-91457099	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs572916330	chr4:91457099-91457100	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs540205447	chr4:91457108-91457109	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs111711066	chr4:91457170-91457171	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs193171727	chr4:91457173-91457174	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs28513298	chr4:91457175-91457176	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs370266450	chr4:91457182-91457183	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs58150974	chr4:91457183-91457184	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
lymphocytic leukemia	21291569	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
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	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
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
Acute monocytic leukemia	16498392	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Parkinson disease	20877625	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Obesity	20622171	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:91457600-91457800	Enhancers	H1 Cell Line	embryonic stem cell
2	chr4:91457600-91457800	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr4:91457600-91459400	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr4:91457600-91459800	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr4:91457600-91461000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr4:91457800-91458200	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr4:91457800-91458400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr4:91457800-91458800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr4:91457800-91461200	Enhancers	HUES64 Cell Line	embryonic stem cell

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