Variant report

Variant	esv3336542
Chromosome Location	chr5:108481103-108483001
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 85 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139682343	chr5:108481110-108481111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs545811642	chr5:108481147-108481148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs571474218	chr5:108481153-108481154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs187578012	chr5:108481155-108481156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs565373706	chr5:108481201-108481202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550786895	chr5:108481221-108481222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs567416555	chr5:108481222-108481223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs562494039	chr5:108481226-108481227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs537895421	chr5:108481286-108481287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs191649257	chr5:108481345-108481346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs144571835	chr5:108481355-108481356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs556825342	chr5:108481372-108481373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs139018482	chr5:108481387-108481388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs182693175	chr5:108481482-108481483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs9326762	chr5:108481510-108481511	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs142218260	chr5:108481553-108481554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs371677302	chr5:108481580-108481581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs146374425	chr5:108481614-108481615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs201903727	chr5:108481627-108481628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs578189014	chr5:108481628-108481629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs564096129	chr5:108481631-108481632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs116733725	chr5:108481663-108481664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs573828285	chr5:108481696-108481697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs10214383	chr5:108481697-108481698	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs10214384	chr5:108481702-108481703	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs528481669	chr5:108481721-108481722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs551713512	chr5:108481724-108481725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs565074181	chr5:108481735-108481736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs530831607	chr5:108481846-108481847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs139670539	chr5:108481860-108481861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs567453253	chr5:108481885-108481886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs376335261	chr5:108481899-108481900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs368315465	chr5:108481900-108481901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs369449905	chr5:108481908-108481909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs200295439	chr5:108481909-108481910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs373808390	chr5:108481910-108481911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs368341805	chr5:108481911-108481912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs529886092	chr5:108481925-108481926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs60693142	chr5:108481928-108481929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs11960398	chr5:108481935-108481936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs373376729	chr5:108481945-108481946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs376971089	chr5:108481946-108481947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs371648556	chr5:108481947-108481948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs560130701	chr5:108481952-108481953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs546720123	chr5:108481967-108481968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs566838892	chr5:108481969-108481970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs372956560	chr5:108481971-108481972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs377202381	chr5:108481973-108481974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs375654116	chr5:108481974-108481975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs538794539	chr5:108481976-108481977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	16773561	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Intellectual disability	21811512	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:108442000-108497400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr5:108468800-108521800	Weak transcription	Aorta	Aorta
3	chr5:108470000-108497000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:108470400-108482200	Weak transcription	HSMM	muscle
5	chr5:108473800-108488400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:108476000-108519200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr5:108476200-108506800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr5:108477800-108482200	Weak transcription	NHLF	lung
9	chr5:108479000-108482000	Weak transcription	Ovary	ovary
10	chr5:108479000-108499800	Weak transcription	HSMMtube	muscle
11	chr5:108479400-108482200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr5:108481000-108483200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:108481600-108535000	Weak transcription	Left Ventricle	heart
14	chr5:108482000-108482600	Enhancers	Muscle Satellite Cultured Cells	--
15	chr5:108482200-108482600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr5:108482200-108482600	Enhancers	HSMM	muscle
17	chr5:108482200-108482600	Enhancers	NHLF	lung
18	chr5:108482400-108482600	Enhancers	Ovary	ovary
19	chr5:108482400-108482600	Enhancers	NHDF-Ad	bronchial
20	chr5:108482600-108489600	Weak transcription	HSMM	muscle

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