Variant report

Variant	nsv4431
Chromosome Location	chr4:94547397-94566762
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 108 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs180724681	chr4:94554726-94554727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs576161968	chr4:94554750-94554751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs1108563	chr4:94554762-94554763	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs186225937	chr4:94554789-94554790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191895810	chr4:94554799-94554800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs1108562	chr4:94554804-94554805	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs541372748	chr4:94554822-94554823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs564162967	chr4:94554833-94554834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs182592616	chr4:94554836-94554837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs555876689	chr4:94554851-94554852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs538620064	chr4:94554852-94554853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs371024876	chr4:94554864-94554865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs1108561	chr4:94554917-94554918	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs115355006	chr4:94554935-94554936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs569654154	chr4:94554948-94554949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs532129179	chr4:94554985-94554986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572731138	chr4:94554992-94554993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs552215230	chr4:94555002-94555003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs116723366	chr4:94555006-94555007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs1108560	chr4:94555018-94555019	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs529130115	chr4:94555044-94555045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs186727462	chr4:94555062-94555063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs568052994	chr4:94555069-94555070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs555189323	chr4:94555128-94555129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs115522084	chr4:94555186-94555187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs190488308	chr4:94555235-94555236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs576002194	chr4:94555317-94555318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs140310543	chr4:94555374-94555375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs116791236	chr4:94555476-94555477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs183055118	chr4:94555481-94555482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs572556925	chr4:94555534-94555535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs187069381	chr4:94555541-94555542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs371344500	chr4:94555553-94555554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs561459073	chr4:94555577-94555578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs544335672	chr4:94555612-94555613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs190298680	chr4:94555669-94555670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs367868873	chr4:94555711-94555712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs548911681	chr4:94555731-94555732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs76944852	chr4:94555742-94555743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs577737809	chr4:94555751-94555752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs545050180	chr4:94555760-94555761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs532091926	chr4:94555774-94555775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs551989233	chr4:94555777-94555778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs1369467	chr4:94555780-94555781	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs528162796	chr4:94555795-94555796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs1369468	chr4:94555824-94555825	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs571683493	chr4:94555920-94555921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs567890575	chr4:94555949-94555950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs536972237	chr4:94555957-94555958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs140707842	chr4:94555982-94555983	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
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
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	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
Breast cancer	22522925	CNVD
Autism	20841430	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Epilepsy	20502679	CNVD
early-passage human iPS cells	21368824	CNVD
Glioma	20126413	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:94554600-94555000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:94554800-94555200	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr4:94555000-94555400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:94555200-94555600	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr4:94555400-94556000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:94555800-94556000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr4:94565400-94565800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr4:94565400-94566000	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr4:94565400-94567000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr4:94565800-94566200	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr4:94565800-94566600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr4:94566000-94566200	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr4:94566000-94567800	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr4:94566200-94570600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr4:94566200-94570600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr4:94566600-94567200	Enhancers	iPS-15b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links