Variant report

Variant	nsv10224
Chromosome Location	chr2:234959698-234962384
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	2:234492023-234494396..2:234954947-234965240	Hela-S3	cervix:
2	chr2:234958156..234959702-chr2:234961391..234963970,2	MCF-7	breast:
3	2:234772667-234780240..2:234954947-234965240	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000072080	chromatin interactions
ENSG00000224287	chromatin interactions
ENSG00000228949	chromatin interactions

Extended variants
information (count: 140 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:140 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143082886	chr2:234959702-234959703	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs150764101	chr2:234959703-234959704	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs150743830	chr2:234959709-234959710	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs200722650	chr2:234959713-234959714	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs536799951	chr2:234959726-234959727	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs376162107	chr2:234959758-234959759	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs200913509	chr2:234959764-234959765	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs372791375	chr2:234959769-234959770	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs373791843	chr2:234959785-234959786	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs572168044	chr2:234959823-234959824	Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs139314903	chr2:234959853-234959854	Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs555248755	chr2:234959873-234959874	Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs557604303	chr2:234959899-234959900	Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs114251288	chr2:234959900-234959901	Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs199869807	chr2:234959905-234959906	Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs542997045	chr2:234959930-234959931	Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs563320814	chr2:234959941-234959942	Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs17864800	chr2:234959958-234959959	Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs184068430	chr2:234959959-234959960	Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs559191868	chr2:234960015-234960016	Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs528648415	chr2:234960019-234960020	Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs11563197	chr2:234960021-234960022	Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs113621053	chr2:234960033-234960034	Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs565564338	chr2:234960046-234960047	Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs35087405	chr2:234960054-234960055	Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs17864801	chr2:234960073-234960074	Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs550696122	chr2:234960133-234960134	Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs149578050	chr2:234960227-234960228	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs536261953	chr2:234960234-234960235	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs144236015	chr2:234960258-234960259	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs140048606	chr2:234960307-234960308	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs545745405	chr2:234960309-234960310	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs534474220	chr2:234960319-234960320	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs557563335	chr2:234960323-234960324	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs577490451	chr2:234960362-234960363	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs562813838	chr2:234960365-234960366	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs536992596	chr2:234960385-234960386	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs555575893	chr2:234960392-234960393	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs187514234	chr2:234960394-234960395	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs143578843	chr2:234960424-234960425	Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs547980940	chr2:234960430-234960431	Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs559369858	chr2:234960458-234960459	Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs573010777	chr2:234960526-234960527	Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs545597269	chr2:234960534-234960535	Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs567956134	chr2:234960535-234960536	Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs191334858	chr2:234960537-234960538	Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs371652474	chr2:234960546-234960547	Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs1507516	chr2:234960570-234960571	Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs376737650	chr2:234960576-234960577	Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs547489421	chr2:234960622-234960623	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	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
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	22429812	CNVD
Bladder cancer	21909424	CNVD
Renal cell carcinoma	21668985	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Wilms tumour	21544195	CNVD
prenatal diagnosis	22389664	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Mental retardation	20152051	CNVD
Cancer	21183584	CNVD
Albright''s disease	22277900	CNVD
Brachydactyly-Mental Retardation Syndrome	22470819	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Colorectal cancer	19359472	CNVD
Autism	18414403	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234957200-234960000	Weak transcription	HMEC	breast
2	chr2:234959000-234959800	Flanking Active TSS	Liver	Liver
3	chr2:234959400-234959800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:234959400-234961000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr2:234959400-234961000	Enhancers	NHDF-Ad	bronchial
6	chr2:234959400-234961400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:234959600-234959800	Enhancers	NHLF	lung
8	chr2:234959600-234960600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:234959600-234961200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:234959800-234960200	Active TSS	Liver	Liver
11	chr2:234959800-234960600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:234959800-234961400	Enhancers	NHEK	skin
13	chr2:234960000-234960400	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr2:234960000-234960400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr2:234960000-234960600	Enhancers	HMEC	breast
16	chr2:234960000-234960600	Enhancers	NH-A	brain
17	chr2:234960000-234961400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:234960200-234961600	Flanking Active TSS	Liver	Liver
19	chr2:234960600-234961600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:234960600-234965600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr2:234961600-234963200	Enhancers	Liver	Liver

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