Variant report

Variant	esv3382349
Chromosome Location	chr5:52571752-52575051
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 131 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:131 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs419816	chr5:52571758-52571759	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs540955778	chr5:52571769-52571770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537742444	chr5:52571773-52571774	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562234421	chr5:52571777-52571778	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs375302766	chr5:52571825-52571826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574143469	chr5:52571859-52571860	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541428765	chr5:52571868-52571869	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562904954	chr5:52571910-52571911	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561053572	chr5:52571935-52571936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530536175	chr5:52571987-52571988	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs77363053	chr5:52572018-52572019	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564336711	chr5:52572052-52572053	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs115515751	chr5:52572152-52572153	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574075602	chr5:52572160-52572161	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs118031798	chr5:52572179-52572180	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191503495	chr5:52572207-52572208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs529158921	chr5:52572220-52572221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs551007395	chr5:52572254-52572255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs148052518	chr5:52572277-52572278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs182760985	chr5:52572289-52572290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs557955575	chr5:52572293-52572294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs141787363	chr5:52572298-52572299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs374849029	chr5:52572308-52572309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs553419725	chr5:52572327-52572328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs555882612	chr5:52572344-52572345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs114482039	chr5:52572388-52572389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs150498107	chr5:52572395-52572396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs138381947	chr5:52572407-52572408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs545920779	chr5:52572427-52572428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs564019640	chr5:52572428-52572429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs528138544	chr5:52572451-52572452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs564510932	chr5:52572478-52572479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs532076732	chr5:52572491-52572492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs560307724	chr5:52572494-52572495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs529222958	chr5:52572521-52572522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs532778695	chr5:52572531-52572532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs142714874	chr5:52572552-52572553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs187403120	chr5:52572572-52572573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs533354190	chr5:52572596-52572597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs41455	chr5:52572597-52572598	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs566855219	chr5:52572605-52572606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs534259051	chr5:52572611-52572612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs555698780	chr5:52572629-52572630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs567493416	chr5:52572669-52572670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs190707650	chr5:52572685-52572686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs562099216	chr5:52572719-52572720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs74852896	chr5:52572855-52572856	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183226762	chr5:52572856-52572857	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545481779	chr5:52572860-52572861	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs147375120	chr5:52572879-52572880	Enhancers Weak transcription	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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52563800-52575200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:52571200-52572200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:52571600-52574000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr5:52572200-52572800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:52572400-52573000	Enhancers	Osteobl	bone
6	chr5:52572400-52573200	Enhancers	Muscle Satellite Cultured Cells	--
7	chr5:52572400-52573200	Enhancers	NHDF-Ad	bronchial
8	chr5:52572400-52573400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr5:52572400-52573400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:52572400-52573400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr5:52572400-52573400	Enhancers	HSMM	muscle
12	chr5:52572800-52573200	Enhancers	Hela-S3	cervix
13	chr5:52572800-52573600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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