Variant report

Variant	esv2488915
Chromosome Location	chr4:90966177-90967572
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	chr4:90967235..90968788-chr4:91048608..91050165,2	MCF-7	breast:
2	chr4:90966171..90967852-chr4:91046779..91049769,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000184305	chromatin interactions

Extended variants
information (count: 53 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35197902	chr4:90966183-90966184	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs35732905	chr4:90966219-90966220	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs569497254	chr4:90966220-90966221	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs397753564	chr4:90966232-90966233	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs77471020	chr4:90966233-90966234	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs538526810	chr4:90966307-90966308	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs558519737	chr4:90966329-90966330	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs78297485	chr4:90966332-90966333	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs148990820	chr4:90966334-90966335	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs376577263	chr4:90966404-90966405	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs572855908	chr4:90966412-90966413	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs535610445	chr4:90966521-90966522	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs66934377	chr4:90966528-90966529	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs398107633	chr4:90966532-90966533	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs67359170	chr4:90966533-90966534	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs56336350	chr4:90966541-90966542	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs565397296	chr4:90966543-90966544	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs371663116	chr4:90966558-90966559	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs575424154	chr4:90966577-90966578	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs143754917	chr4:90966681-90966682	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs114006208	chr4:90966709-90966710	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs183717900	chr4:90966779-90966780	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs188540050	chr4:90966812-90966813	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs59913189	chr4:90966849-90966850	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs148014954	chr4:90966909-90966910	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs75505604	chr4:90966920-90966921	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs141667168	chr4:90966925-90966926	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs562932640	chr4:90966938-90966939	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs564737460	chr4:90966949-90966950	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs72659460	chr4:90966961-90966962	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs193148714	chr4:90966989-90966990	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs552095229	chr4:90967091-90967092	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs145783615	chr4:90967107-90967108	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs138602870	chr4:90967110-90967111	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs118098902	chr4:90967118-90967119	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs546301479	chr4:90967151-90967152	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs142696394	chr4:90967178-90967179	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs115732562	chr4:90967190-90967191	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs6819689	chr4:90967197-90967198	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs529978473	chr4:90967201-90967202	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs575085627	chr4:90967208-90967209	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs548315200	chr4:90967228-90967229	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs537658176	chr4:90967231-90967232	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs184819580	chr4:90967254-90967255	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs577536186	chr4:90967255-90967256	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs72874309	chr4:90967340-90967341	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs528010950	chr4:90967346-90967347	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs531036282	chr4:90967367-90967368	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs376565253	chr4:90967397-90967398	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs542755002	chr4:90967398-90967399	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Parkinson disease	17953491	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:90964000-90973400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr4:90966000-90966200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr4:90966200-90973400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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