Variant report

Variant	esv3443384
Chromosome Location	chr4:120263096-120264967
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538207476	chr4:120263110-120263111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187067778	chr4:120263155-120263156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs9994354	chr4:120263158-120263159	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
4	rs115146187	chr4:120263271-120263272	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192178973	chr4:120263272-120263273	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs10017001	chr4:120263293-120263294	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs9994691	chr4:120263298-120263299	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs10006495	chr4:120263315-120263316	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
9	rs201002024	chr4:120263363-120263364	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200519383	chr4:120263368-120263369	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs33983691	chr4:120263369-120263370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530731100	chr4:120263406-120263407	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566110949	chr4:120263445-120263446	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs140862918	chr4:120263458-120263459	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563769107	chr4:120263459-120263460	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184386002	chr4:120263460-120263461	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201663099	chr4:120263480-120263481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546718933	chr4:120263481-120263482	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190204262	chr4:120263497-120263498	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs10017189	chr4:120263523-120263524	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs10006688	chr4:120263526-120263527	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs148893841	chr4:120263621-120263622	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
23	rs143457155	chr4:120263622-120263623	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
24	rs538567227	chr4:120263631-120263632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558168111	chr4:120263635-120263636	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373033527	chr4:120263834-120263835	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534032180	chr4:120263980-120263981	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs377404820	chr4:120264058-120264059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574060156	chr4:120264089-120264090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541592520	chr4:120264198-120264199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555165922	chr4:120264205-120264206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534007682	chr4:120264246-120264247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs193149612	chr4:120264256-120264257	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
34	rs544137677	chr4:120264278-120264279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200956545	chr4:120264355-120264356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563919692	chr4:120264361-120264362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577516977	chr4:120264366-120264367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs202182769	chr4:120264409-120264410	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200209487	chr4:120264462-120264463	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201333619	chr4:120264470-120264471	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539855008	chr4:120264556-120264557	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs375212377	chr4:120264602-120264603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs560157568	chr4:120264626-120264627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs185604900	chr4:120264652-120264653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs28706437	chr4:120264737-120264738	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
46	rs28691602	chr4:120264770-120264771	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs563109102	chr4:120264785-120264786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs532033796	chr4:120264803-120264804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs552150255	chr4:120264808-120264809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs28437684	chr4:120264849-120264850	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:70)

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
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
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	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
Esophageal cancer	21851588	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120262200-120264600	Weak transcription	HepG2	liver
2	chr4:120263200-120264000	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr4:120264000-120264400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr4:120264400-120266400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr4:120264600-120264800	Enhancers	HepG2	liver

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