Variant report

Variant	esv3388089
Chromosome Location	chr3:157499858-157501806
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 95 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192025590	chr3:157499862-157499863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs145708836	chr3:157499882-157499883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs371637777	chr3:157499932-157499933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs559208594	chr3:157499945-157499946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs577470706	chr3:157500046-157500047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs535338746	chr3:157500077-157500078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs565659029	chr3:157500083-157500084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs112045388	chr3:157500101-157500102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs115124970	chr3:157500169-157500170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs138744779	chr3:157500215-157500216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs184218129	chr3:157500269-157500270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs115405997	chr3:157500272-157500273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs369340848	chr3:157500303-157500304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575319015	chr3:157500319-157500320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs545547040	chr3:157500361-157500362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs563948861	chr3:157500387-157500388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs188853018	chr3:157500388-157500389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs141545575	chr3:157500418-157500419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs539591730	chr3:157500426-157500427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs146070275	chr3:157500496-157500497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs530075680	chr3:157500497-157500498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs191741357	chr3:157500509-157500510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs184477422	chr3:157500511-157500512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs537559641	chr3:157500512-157500513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs371719893	chr3:157500557-157500558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs376239058	chr3:157500577-157500578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs144009300	chr3:157500578-157500579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs371561855	chr3:157500583-157500584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs57663456	chr3:157500591-157500592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs59318950	chr3:157500594-157500595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs543916915	chr3:157500608-157500609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs369010737	chr3:157500609-157500610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs28608077	chr3:157500617-157500618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs189360697	chr3:157500619-157500620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs529338150	chr3:157500636-157500637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs182209022	chr3:157500637-157500638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs200211263	chr3:157500638-157500639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs201801981	chr3:157500644-157500645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs367590773	chr3:157500646-157500647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs28429140	chr3:157500651-157500652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs200062330	chr3:157500653-157500654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs28391708	chr3:157500659-157500660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs28758527	chr3:157500660-157500661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs28662293	chr3:157500703-157500704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs28725170	chr3:157500704-157500705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs28587752	chr3:157500710-157500711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs552654358	chr3:157500721-157500722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs34686816	chr3:157500723-157500724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs200113143	chr3:157500731-157500732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs200859752	chr3:157500733-157500734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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	21509527	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:157498800-157500600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr3:157499400-157500600	Enhancers	NHDF-Ad	bronchial
3	chr3:157499800-157500000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr3:157499800-157500000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr3:157499800-157500000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr3:157499800-157500400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr3:157499800-157500400	Enhancers	Osteobl	bone
8	chr3:157499800-157501200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr3:157500200-157500400	Enhancers	NHLF	lung
10	chr3:157500400-157502200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr3:157500400-157502200	Weak transcription	Osteobl	bone
12	chr3:157500400-157502600	Weak transcription	NHLF	lung
13	chr3:157500600-157501600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr3:157500600-157501600	Weak transcription	NHDF-Ad	bronchial
15	chr3:157500800-157501200	Enhancers	Aorta	Aorta
16	chr3:157501200-157501600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr3:157501200-157501600	Weak transcription	Aorta	Aorta
18	chr3:157501600-157501800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr3:157501600-157501800	Enhancers	Aorta	Aorta
20	chr3:157501600-157502600	Enhancers	NHDF-Ad	bronchial
21	chr3:157501600-157503000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr3:157501800-157502600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr3:157501800-157503000	Weak transcription	Aorta	Aorta
24	chr3:157501800-157503400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr3:157501800-157503400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr3:157501800-157504800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr3:157501800-157504800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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