Variant report

Variant	esv2630253
Chromosome Location	chr5:105721668-105727440
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 87 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570300912	chr5:105721677-105721678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs548421587	chr5:105721682-105721683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs146033386	chr5:105721710-105721711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs139893397	chr5:105721731-105721732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs72788925	chr5:105721740-105721741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561503073	chr5:105721780-105721781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555913271	chr5:105721844-105721845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572581046	chr5:105721876-105721877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535244322	chr5:105721878-105721879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558134659	chr5:105721937-105721938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181590107	chr5:105721965-105721966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs149724688	chr5:105721966-105721967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563323045	chr5:105722023-105722024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs367967000	chr5:105722044-105722045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs144476286	chr5:105722055-105722056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs542382659	chr5:105722056-105722057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs559418311	chr5:105722066-105722067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs148437779	chr5:105722072-105722073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs112288313	chr5:105722125-105722126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs186709836	chr5:105722139-105722140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs4957659	chr5:105722149-105722150	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs549755220	chr5:105722202-105722203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs569750410	chr5:105722206-105722207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs191666718	chr5:105722291-105722292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs183047272	chr5:105722344-105722345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs112801111	chr5:105722360-105722361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs141971924	chr5:105722422-105722423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs553465068	chr5:105722509-105722510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs558338005	chr5:105722561-105722562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs571959017	chr5:105722594-105722595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs144881853	chr5:105722628-105722629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556983321	chr5:105722640-105722641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573647991	chr5:105722641-105722642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542631843	chr5:105722648-105722649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187772721	chr5:105722650-105722651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572905209	chr5:105722707-105722708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs147963198	chr5:105722718-105722719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564786092	chr5:105722738-105722739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530693874	chr5:105722752-105722753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568612338	chr5:105722754-105722755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191083863	chr5:105722814-105722815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs367560752	chr5:105722823-105722824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs560863830	chr5:105722881-105722882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529242692	chr5:105722894-105722895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs199612084	chr5:105722901-105722902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs66632046	chr5:105722910-105722911	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs565997506	chr5:105722937-105722938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200980394	chr5:105723066-105723067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs62379264	chr5:105723107-105723108	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs571894035	chr5:105723127-105723128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:105717000-105722000	Weak transcription	HUVEC	blood vessel
2	chr5:105719000-105723800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:105722000-105722400	Enhancers	HUVEC	blood vessel
4	chr5:105722000-105722600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:105722200-105722600	Enhancers	Fetal Heart	heart

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