Variant report

Variant	nsv964071
Chromosome Location	chr4:93623110-93624214
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr4:93623048-93623209	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
MTND1P19	TF binding region

Extended variants
information (count: 40 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145024441	chr4:93623131-93623132	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs550043740	chr4:93623196-93623197	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs561029623	chr4:93623252-93623253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs538930088	chr4:93623260-93623261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs558293741	chr4:93623265-93623266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs115757712	chr4:93623287-93623288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs534389346	chr4:93623290-93623291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs554290341	chr4:93623296-93623297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs370871303	chr4:93623310-93623311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs190492037	chr4:93623312-93623313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs181477920	chr4:93623319-93623320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs13148541	chr4:93623333-93623334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs117234350	chr4:93623336-93623337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs13148551	chr4:93623340-93623341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs556918024	chr4:93623343-93623344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs149083627	chr4:93623348-93623349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs13148560	chr4:93623349-93623350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs143106544	chr4:93623350-93623351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559972987	chr4:93623353-93623354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs13148931	chr4:93623354-93623355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs13148408	chr4:93623389-93623390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs542342147	chr4:93623436-93623437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs562083615	chr4:93623494-93623495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs560325869	chr4:93623501-93623502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs369821648	chr4:93623516-93623517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs151065428	chr4:93623579-93623580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs1479330	chr4:93623580-93623581	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs532255585	chr4:93623586-93623587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs552079721	chr4:93623588-93623589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs545375521	chr4:93623593-93623594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs115642273	chr4:93623638-93623639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs186014100	chr4:93623647-93623648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs554756985	chr4:93623653-93623654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs112567038	chr4:93623662-93623663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs537170944	chr4:93623670-93623671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs370126641	chr4:93623699-93623700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs556649340	chr4:93623700-93623701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs560789804	chr4:93623816-93623817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576807355	chr4:93623909-93623910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs34908014	chr4:93623942-93623943	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:89)

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
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
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Cancer	19907438	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Bipolar disorder	19114987	CNVD
Autism	20841430	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:93599200-93624000	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr4:93622800-93623200	Enhancers	Liver	Liver
3	chr4:93623000-93623800	Enhancers	Fetal Intestine Small	intestine

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