Variant report

Variant	esv3323214
Chromosome Location	chr5:49471195-49475393
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 466 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:466 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373405142	chr5:49471195-49471196	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs376579059	chr5:49471197-49471198	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535324363	chr5:49471198-49471199	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs4865932	chr5:49471199-49471200	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371111830	chr5:49471202-49471203	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555743818	chr5:49471205-49471206	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs374390143	chr5:49471206-49471207	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs368524546	chr5:49471210-49471211	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371267238	chr5:49471214-49471215	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201827121	chr5:49471221-49471222	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200217771	chr5:49471232-49471233	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572011914	chr5:49471233-49471234	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371622382	chr5:49471238-49471239	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376054703	chr5:49471240-49471241	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540998106	chr5:49471247-49471248	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs368171081	chr5:49471252-49471253	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557901942	chr5:49471253-49471254	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs372420241	chr5:49471257-49471258	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200495825	chr5:49471258-49471259	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375272498	chr5:49471262-49471263	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs369705348	chr5:49471265-49471266	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112520325	chr5:49471271-49471272	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201700875	chr5:49471272-49471273	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs199987656	chr5:49471293-49471294	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577796360	chr5:49471297-49471298	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs543670149	chr5:49471298-49471299	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560197491	chr5:49471299-49471300	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs373475885	chr5:49471303-49471304	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113583918	chr5:49471304-49471305	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371367638	chr5:49471319-49471320	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542915861	chr5:49471320-49471321	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369065541	chr5:49471324-49471325	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559335967	chr5:49471354-49471355	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs202238848	chr5:49471360-49471361	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369929057	chr5:49471372-49471373	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547373102	chr5:49471383-49471384	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570641557	chr5:49471394-49471395	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533251133	chr5:49471398-49471399	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372686738	chr5:49471408-49471409	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550002544	chr5:49471411-49471412	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs8188162	chr5:49471412-49471413	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368878256	chr5:49471430-49471431	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556048761	chr5:49471447-49471448	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs377159241	chr5:49471451-49471452	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566206889	chr5:49471459-49471460	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs534637845	chr5:49471473-49471474	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557764939	chr5:49471491-49471492	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs55993390	chr5:49471497-49471498	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12656528	chr5:49471510-49471511	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556738940	chr5:49471518-49471519	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:49469400-49473000	Weak transcription	HUVEC	blood vessel
2	chr5:49470400-49493600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:49470600-49473000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
4	chr5:49471000-49476800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
5	chr5:49471000-49486200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
6	chr5:49471000-49517600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
7	chr5:49471800-49473000	ZNF genes & repeats	HepG2	liver
8	chr5:49473000-49473400	ZNF genes & repeats	HUVEC	blood vessel
9	chr5:49474200-49486400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links