Variant report

Variant	esv3463574
Chromosome Location	chr3:157419571-157422250
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:157418862..157421216-chr3:157476261..157479212,2	K562	blood:
2	chr3:157419711..157420339-chr8:114148761..114149283,2	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370955018	chr3:157419576-157419577	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs62278759	chr3:157419603-157419604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs375545762	chr3:157419637-157419638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs535026234	chr3:157419643-157419644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs184206711	chr3:157419664-157419665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs150893202	chr3:157419670-157419671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs9289990	chr3:157419690-157419691	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs78311654	chr3:157419744-157419745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs79708302	chr3:157419745-157419746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs556655859	chr3:157419760-157419761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs4680393	chr3:157419774-157419775	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs539136400	chr3:157419775-157419776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs139417593	chr3:157419787-157419788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs372503210	chr3:157419790-157419791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs16828145	chr3:157419849-157419850	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs540578686	chr3:157419886-157419887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs561916688	chr3:157419890-157419891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs188484434	chr3:157419895-157419896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs181262100	chr3:157419957-157419958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs7609979	chr3:157419976-157419977	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs531070325	chr3:157420026-157420027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs553258897	chr3:157420069-157420070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs35416171	chr3:157420076-157420077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs552381746	chr3:157420089-157420090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs564750928	chr3:157420091-157420092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs7620316	chr3:157420121-157420122	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs545386853	chr3:157420156-157420157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs545675316	chr3:157422006-157422007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs115485258	chr3:157422033-157422034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs527240458	chr3:157422036-157422037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs531459206	chr3:157422058-157422059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs549111210	chr3:157422066-157422067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs187030211	chr3:157422136-157422137	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17142309	CNVD
Breast cancer	21509527	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:157418400-157419600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr3:157418400-157420200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr3:157422000-157423400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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