Variant report

Variant	nsv10540
Chromosome Location	chr4:102743177-102746234
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 125 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:125 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185867083	chr4:102743220-102743221	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs190982721	chr4:102743230-102743231	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs116361806	chr4:102743316-102743317	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs543922021	chr4:102743331-102743332	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs562191631	chr4:102743336-102743337	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs13135381	chr4:102743353-102743354	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs547316919	chr4:102743394-102743395	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559559503	chr4:102743407-102743408	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs533078707	chr4:102743419-102743420	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs143249712	chr4:102743420-102743421	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs13136118	chr4:102743438-102743439	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs536679269	chr4:102743441-102743442	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs138990705	chr4:102743459-102743460	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs142895199	chr4:102743477-102743478	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567067748	chr4:102743486-102743487	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs182693122	chr4:102743515-102743516	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs200333516	chr4:102743525-102743526	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs539250755	chr4:102743527-102743528	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs554077231	chr4:102743576-102743577	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs572672800	chr4:102743583-102743584	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs539762564	chr4:102743594-102743595	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs28602583	chr4:102743599-102743600	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs72686722	chr4:102743631-102743632	Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs543885673	chr4:102743668-102743669	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs376355107	chr4:102743672-102743673	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs386677888	chr4:102743687-102743688	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs55768089	chr4:102743698-102743699	Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs541172390	chr4:102743718-102743719	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs35179391	chr4:102743775-102743776	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs559304882	chr4:102743803-102743804	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs13112246	chr4:102743811-102743812	Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs551370151	chr4:102743828-102743829	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs563269449	chr4:102743846-102743847	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs530419954	chr4:102743847-102743848	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs370567826	chr4:102743862-102743863	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs548608281	chr4:102743867-102743868	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs143662071	chr4:102743873-102743874	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs372476295	chr4:102743897-102743898	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs534442803	chr4:102743898-102743899	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs547938982	chr4:102743929-102743930	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs566129155	chr4:102743930-102743931	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs56176833	chr4:102743936-102743937	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs543005191	chr4:102743943-102743944	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs565025768	chr4:102743962-102743963	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs369474353	chr4:102743976-102743977	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs570404114	chr4:102743989-102743990	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs537402800	chr4:102744014-102744015	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs532086010	chr4:102744020-102744021	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs555802104	chr4:102744023-102744024	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs188908240	chr4:102744024-102744025	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
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
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
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	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
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	18000384	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
myeloid cancer	21057493	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:102737400-102744800	Genic enhancers	Primary B cells from peripheral blood	blood
2	chr4:102741600-102745200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr4:102742400-102743600	Strong transcription	Primary B cells from cord blood	blood
4	chr4:102743600-102744400	Genic enhancers	Primary B cells from cord blood	blood
5	chr4:102744200-102746600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr4:102744400-102745000	Enhancers	Primary B cells from cord blood	blood
7	chr4:102744800-102745600	Enhancers	Primary B cells from peripheral blood	blood
8	chr4:102745000-102745400	Flanking Active TSS	Primary B cells from cord blood	blood
9	chr4:102745200-102745800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr4:102745400-102747000	Enhancers	Primary B cells from cord blood	blood
11	chr4:102745600-102747600	Weak transcription	Primary B cells from peripheral blood	blood

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