Variant report

Variant	esv2444178
Chromosome Location	chr5:52458447-52460065
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554038598	chr5:52458512-52458513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs184801186	chr5:52458533-52458534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs542806810	chr5:52458548-52458549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs554586342	chr5:52458592-52458593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs74571722	chr5:52458666-52458667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs143688309	chr5:52458671-52458672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs141404554	chr5:52458706-52458707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs114563101	chr5:52458718-52458719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs540287055	chr5:52458774-52458775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs559646354	chr5:52458831-52458832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs190047857	chr5:52458850-52458851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs74737917	chr5:52458852-52458853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs138673077	chr5:52458947-52458948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs199805947	chr5:52458986-52458987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs559388570	chr5:52459006-52459007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575790384	chr5:52459029-52459030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs149241815	chr5:52459112-52459113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201787676	chr5:52459113-52459114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs79301198	chr5:52459115-52459116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs79164816	chr5:52459116-52459117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs35932266	chr5:52459139-52459140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548717394	chr5:52459142-52459143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs2591904	chr5:52459150-52459151	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs531229917	chr5:52459323-52459324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549561397	chr5:52459357-52459358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532800801	chr5:52459364-52459365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184467223	chr5:52459410-52459411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559407386	chr5:52459413-52459414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376073818	chr5:52459497-52459498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558412943	chr5:52459568-52459569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544797836	chr5:52459580-52459581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs144459224	chr5:52459603-52459604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs536450053	chr5:52459613-52459614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs377692912	chr5:52459638-52459639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs371275244	chr5:52459648-52459649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs554705887	chr5:52459756-52459757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs2652545	chr5:52459809-52459810	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs537349048	chr5:52459825-52459826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs189252970	chr5:52459835-52459836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs148002471	chr5:52459849-52459850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs142483559	chr5:52459888-52459889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs181980519	chr5:52459944-52459945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs574552001	chr5:52459949-52459950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs184979351	chr5:52459971-52459972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs527961248	chr5:52459981-52459982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs531139538	chr5:52459996-52459997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs552822578	chr5:52460019-52460020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	20729466	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
Hepatocellular carcinoma	16750200	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
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21364760	CNVD
Oral cancer	21386901	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52457600-52458600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr5:52457600-52458800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:52457600-52459000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:52458000-52458800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr5:52458200-52460200	Weak transcription	NHDF-Ad	bronchial
6	chr5:52458200-52461800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr5:52458200-52463600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr5:52458200-52463600	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr5:52458200-52463600	Weak transcription	Osteobl	bone
10	chr5:52458400-52460000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:52458400-52461400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:52458600-52460000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr5:52458800-52461800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr5:52459000-52460400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr5:52459600-52461200	Enhancers	Liver	Liver
16	chr5:52460000-52460800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr5:52460000-52465200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links