Variant report

Variant	nsv969251
Chromosome Location	chr5:152619724-152635191
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	chr5:152619229..152621151-chr5:152622552..152624765,2	K562	blood:
2	chr5:152619229..152621151-chr5:152622552..152624765,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540507598	chr5:152626211-152626212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs565402542	chr5:152626286-152626287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs532557679	chr5:152626296-152626297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs192556204	chr5:152626328-152626329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs34987547	chr5:152626400-152626401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs563009330	chr5:152626412-152626413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs530208369	chr5:152626464-152626465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184288213	chr5:152626488-152626489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566656704	chr5:152626505-152626506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs527450328	chr5:152626528-152626529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs144171511	chr5:152626536-152626537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs570608563	chr5:152626541-152626542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs189194274	chr5:152626551-152626552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs113329288	chr5:152626572-152626573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs568196364	chr5:152626576-152626577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs535159356	chr5:152626578-152626579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554774842	chr5:152626599-152626600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs181365266	chr5:152626615-152626616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs540396809	chr5:152626640-152626641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs186518487	chr5:152626653-152626654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs559203194	chr5:152626677-152626678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs2926290	chr5:152626704-152626705	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs544633951	chr5:152626737-152626738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs189010330	chr5:152626770-152626771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs181690239	chr5:152626773-152626774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs10477051	chr5:152626786-152626787	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs560543626	chr5:152626832-152626833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs527487123	chr5:152626858-152626859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs552046371	chr5:152626882-152626883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs570768945	chr5:152626904-152626905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs554092479	chr5:152626917-152626918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs139468447	chr5:152626952-152626953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs572655726	chr5:152626980-152626981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs144208485	chr5:152626994-152626995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs535047415	chr5:152627024-152627025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs186182014	chr5:152627058-152627059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs10071927	chr5:152627059-152627060	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs200916254	chr5:152627061-152627062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs377252181	chr5:152627076-152627077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs534133962	chr5:152627084-152627085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs57338666	chr5:152627088-152627089	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs200188605	chr5:152627091-152627092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs190901900	chr5:152627160-152627161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs538133514	chr5:152627166-152627167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs556783067	chr5:152627186-152627187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs112908864	chr5:152627189-152627190	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	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
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Renal cell carcinoma	18592004	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	17603634	CNVD
Crohn''s disease	20106866	CNVD
Breast cancer	20409316	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Deafness	19353646	CNVD
Developmental delay	19353646	CNVD
dysmorphism	19353646	CNVD
feeding difficulties	19353646	CNVD
strabismus	19353646	CNVD
Gastric adenocarcinoma	19115996	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:152626200-152627000	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr5:152626200-152627000	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr5:152626800-152627000	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr5:152626800-152627200	Enhancers	HUES48 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links