Variant report

Variant	esv2762546
Chromosome Location	chr5:119409792-119413660
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:119398548..119400773-chr5:119411952..119413721,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 73 )

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	rs141421847	chr5:119409818-119409819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs571743032	chr5:119409845-119409846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs534265746	chr5:119409865-119409866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs574010709	chr5:119409898-119409899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs552959344	chr5:119409912-119409913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs554342347	chr5:119409914-119409915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs718734	chr5:119409928-119409929	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs542704153	chr5:119409938-119409939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs556380148	chr5:119409954-119409955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs562869892	chr5:119409968-119409969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs188498109	chr5:119409984-119409985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs147000460	chr5:119410000-119410001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs1907198	chr5:119410012-119410013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs527508998	chr5:119410032-119410033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs533394194	chr5:119410071-119410072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs540706800	chr5:119410112-119410113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs560858028	chr5:119410123-119410124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs138216880	chr5:119410135-119410136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs375100805	chr5:119410165-119410166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs180927387	chr5:119410179-119410180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs185851968	chr5:119410199-119410200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs545432328	chr5:119410264-119410265	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532059208	chr5:119410282-119410283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552131941	chr5:119410283-119410284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571855489	chr5:119410293-119410294	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143368105	chr5:119410302-119410303	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547867921	chr5:119410313-119410314	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369643091	chr5:119410461-119410462	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs10052192	chr5:119410495-119410496	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs536610470	chr5:119410596-119410597	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143031061	chr5:119410628-119410629	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576261144	chr5:119410652-119410653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148220085	chr5:119410683-119410684	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558456321	chr5:119410692-119410693	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192370835	chr5:119410696-119410697	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141220922	chr5:119410703-119410704	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs150663468	chr5:119410733-119410734	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs78286824	chr5:119410735-119410736	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs73262642	chr5:119410749-119410750	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs543369949	chr5:119410755-119410756	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs575100074	chr5:119410785-119410786	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563116817	chr5:119410822-119410823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs532180046	chr5:119410887-119410888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs186376135	chr5:119410923-119410924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs548861424	chr5:119410935-119410936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs527842662	chr5:119410962-119410963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs567493223	chr5:119410968-119410969	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Colorectal cancer	16272173	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
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119408000-119410800	Weak transcription	Aorta	Aorta
2	chr5:119408200-119410200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr5:119409400-119410200	Enhancers	Dnd41	blood
4	chr5:119410200-119411000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr5:119410800-119411000	Enhancers	Aorta	Aorta

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