Variant report

Variant	esv275282
Chromosome Location	chr5:124619190-124622296
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 137 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:137 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13155839	chr5:124619190-124619191	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs1268575	chr5:124619256-124619257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs553943751	chr5:124619270-124619271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs572514007	chr5:124619302-124619303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs545549781	chr5:124619338-124619339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs372704687	chr5:124619362-124619363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs143613851	chr5:124619379-124619380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs71573932	chr5:124619393-124619394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs563938634	chr5:124619406-124619407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs531440477	chr5:124619427-124619428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs543294955	chr5:124619480-124619481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs186144298	chr5:124619547-124619548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs528853580	chr5:124619566-124619567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs557321440	chr5:124619573-124619574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs547383783	chr5:124619582-124619583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs565597152	chr5:124619609-124619610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs17461763	chr5:124619611-124619612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs190994722	chr5:124619613-124619614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs554108864	chr5:124619638-124619639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs373113015	chr5:124619672-124619673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs554144832	chr5:124619695-124619696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs538469257	chr5:124619717-124619718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs556553380	chr5:124619742-124619743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs573934421	chr5:124619762-124619763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs72781131	chr5:124619779-124619780	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs368892577	chr5:124619788-124619789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs535443253	chr5:124619899-124619900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554141619	chr5:124619901-124619902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572157065	chr5:124619956-124619957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545885561	chr5:124620009-124620010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183140395	chr5:124620025-124620026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575807224	chr5:124620045-124620046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs59765583	chr5:124620072-124620073	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs561797562	chr5:124620078-124620079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs1439578	chr5:124620114-124620115	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs186433554	chr5:124620125-124620126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs199609842	chr5:124620134-124620135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376850748	chr5:124620135-124620136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs114202415	chr5:124620187-124620188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs1439577	chr5:124620196-124620197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551479543	chr5:124620226-124620227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565491667	chr5:124620305-124620306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533027784	chr5:124620316-124620317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183095021	chr5:124620382-124620383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374259432	chr5:124620413-124620414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs75756577	chr5:124620415-124620416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550361612	chr5:124620456-124620457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568615252	chr5:124620472-124620473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540247470	chr5:124620509-124620510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs146351989	chr5:124620578-124620579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
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
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
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Myelofibrosis	22110671	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	16397240	CNVD
Parathyroid adenoma	22454399	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Malignant fibrous histiocytomas	21085701	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124614400-124631400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:124617600-124622000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:124618400-124619800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:124619000-124619200	Enhancers	Colon Smooth Muscle	Colon
5	chr5:124619000-124619200	Enhancers	Fetal Heart	heart
6	chr5:124622000-124622400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:124622000-124622400	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr5:124622000-124622400	Enhancers	Fetal Brain Male	brain
9	chr5:124622000-124622400	Enhancers	Pancreatic Islets	Pancreatic Islet

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