Variant report

Variant	esv3360953
Chromosome Location	chr5:50311445-50313493
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:50309868..50312165-chr5:50319005..50321360,2	K562	blood:
2	chr5:50310953..50312877-chr5:50313378..50315207,2	MCF-7	breast:
3	chr5:50310953..50312877-chr5:50313378..50315207,2	MCF-7	breast:

Extended variants
information (count: 65 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143855715	chr5:50311455-50311456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs527838385	chr5:50311480-50311481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548030595	chr5:50311524-50311525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs374833010	chr5:50311560-50311561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533663814	chr5:50311634-50311635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189313084	chr5:50311689-50311690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs570031882	chr5:50311692-50311693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs368285733	chr5:50311714-50311715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529289113	chr5:50311723-50311724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs148608415	chr5:50311820-50311821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550441780	chr5:50311821-50311822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs372452649	chr5:50311829-50311830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565839984	chr5:50311838-50311839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534482672	chr5:50311840-50311841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs142235139	chr5:50311841-50311842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543500992	chr5:50311861-50311862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200649501	chr5:50311898-50311899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375618822	chr5:50311899-50311900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371054311	chr5:50311926-50311927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559278154	chr5:50311930-50311931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374678539	chr5:50311933-50311934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs146755607	chr5:50311979-50311980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181615243	chr5:50312087-50312088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139348377	chr5:50312098-50312099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368581381	chr5:50312177-50312178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs28580133	chr5:50312196-50312197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs62367437	chr5:50312228-50312229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553073309	chr5:50312245-50312246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572988386	chr5:50312305-50312306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186284623	chr5:50312311-50312312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190612621	chr5:50312321-50312322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559578848	chr5:50312348-50312349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577741676	chr5:50312368-50312369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112075198	chr5:50312369-50312370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544090049	chr5:50312371-50312372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563018600	chr5:50312380-50312381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183370791	chr5:50312434-50312435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529203942	chr5:50312485-50312486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs1545351	chr5:50312525-50312526	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs565803286	chr5:50312575-50312576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528542532	chr5:50312613-50312614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs186231005	chr5:50312669-50312670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs116463901	chr5:50312679-50312680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537153296	chr5:50312802-50312803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557170473	chr5:50312826-50312827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549036312	chr5:50312830-50312831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555627720	chr5:50312831-50312832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs1545350	chr5:50312850-50312851	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs552991137	chr5:50312914-50312915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572905711	chr5:50312915-50312916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	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
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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:50310800-50314800	Weak transcription	Fetal Heart	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links