Variant report

Variant	nsv964027
Chromosome Location	chr4:8176198-8176698
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140642084	chr4:8176214-8176215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs561648219	chr4:8176215-8176216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs529228233	chr4:8176228-8176229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs28580669	chr4:8176270-8176271	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs116404818	chr4:8176298-8176299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs180892424	chr4:8176299-8176300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs142165495	chr4:8176303-8176304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs566599200	chr4:8176337-8176338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs151206887	chr4:8176401-8176402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs140307426	chr4:8176409-8176410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs149786394	chr4:8176421-8176422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs73799619	chr4:8176449-8176450	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs11547949	chr4:8176480-8176481	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs577983576	chr4:8176527-8176528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs576065648	chr4:8176544-8176545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs543371961	chr4:8176556-8176557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572255617	chr4:8176570-8176571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs368980535	chr4:8176606-8176607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs114393247	chr4:8176620-8176621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs140476933	chr4:8176640-8176641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs1127183	chr4:8176643-8176644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs573807595	chr4:8176669-8176670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs145653393	chr4:8176677-8176678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs562672918	chr4:8176678-8176679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs532919625	chr4:8176680-8176681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs540913719	chr4:8176695-8176696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8170600-8183200	Weak transcription	Right Atrium	heart
2	chr4:8172400-8181600	Weak transcription	Esophagus	oesophagus
3	chr4:8173800-8176200	Enhancers	Spleen	Spleen
4	chr4:8173800-8178400	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr4:8174400-8177200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:8174400-8178400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr4:8174400-8178800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr4:8174600-8176800	Weak transcription	GM12878-XiMat	blood
9	chr4:8174600-8178200	Weak transcription	Fetal Thymus	thymus
10	chr4:8175800-8178800	Weak transcription	Hela-S3	cervix
11	chr4:8176000-8176200	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr4:8176000-8177200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr4:8176000-8178400	Weak transcription	Primary B cells from peripheral blood	blood
14	chr4:8176000-8178400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr4:8176000-8178400	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr4:8176000-8190200	Weak transcription	Psoas Muscle	Psoas
17	chr4:8176200-8177000	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr4:8176200-8177400	Weak transcription	Spleen	Spleen
19	chr4:8176200-8178400	Weak transcription	Skeletal Muscle Female	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links