Variant report

Variant	esv3459920
Chromosome Location	chr2:190095837-190102922
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	chr2:190090132..190092755-chr2:190097807..190099636,2	MCF-7	breast:

Extended variants
information (count: 239 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:239 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565553815	chr2:190095901-190095902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs529810296	chr2:190095912-190095913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547959537	chr2:190095923-190095924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs567687053	chr2:190095974-190095975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs112346651	chr2:190095994-190095995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs538325463	chr2:190096121-190096122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs574065983	chr2:190096122-190096123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs181246878	chr2:190096126-190096127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs571567944	chr2:190096149-190096150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs539358824	chr2:190096182-190096183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs369050291	chr2:190096186-190096187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs572758305	chr2:190096192-190096193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs78842644	chr2:190096224-190096225	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555136012	chr2:190096260-190096261	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs146701496	chr2:190096274-190096275	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs148841415	chr2:190096287-190096288	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564737826	chr2:190096303-190096304	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576393790	chr2:190096325-190096326	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540948416	chr2:190096336-190096337	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559250924	chr2:190096393-190096394	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560951341	chr2:190096424-190096425	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529921840	chr2:190096426-190096427	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs143488376	chr2:190096478-190096479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs199814408	chr2:190096521-190096522	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs1399992	chr2:190096533-190096534	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs372452238	chr2:190096598-190096599	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374839473	chr2:190096620-190096621	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186403151	chr2:190096631-190096632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189180001	chr2:190096674-190096675	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7609495	chr2:190096685-190096686	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs566417790	chr2:190096710-190096711	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536942594	chr2:190096718-190096719	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554869605	chr2:190096727-190096728	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs34428054	chr2:190096770-190096771	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373310502	chr2:190096783-190096784	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550801105	chr2:190096826-190096827	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576540430	chr2:190096838-190096839	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs13012327	chr2:190096850-190096851	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs558592202	chr2:190096951-190096952	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs115002775	chr2:190096978-190096979	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376459342	chr2:190097046-190097047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs540659801	chr2:190097047-190097048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs147988126	chr2:190097077-190097078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs1515874	chr2:190097083-190097084	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs1515875	chr2:190097106-190097107	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs534206642	chr2:190097193-190097194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs563344848	chr2:190097316-190097317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs180709942	chr2:190097331-190097332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs558862189	chr2:190097350-190097351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs565416249	chr2:190097380-190097381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	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
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	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
Breast cancer	21364760	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian cancer	21720365	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Colorectal cancer	16912164	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190076000-190096800	Weak transcription	Aorta	Aorta
2	chr2:190087600-190099800	Weak transcription	HSMM	muscle
3	chr2:190088400-190097800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:190095600-190097800	Enhancers	A549	lung
5	chr2:190095800-190096400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:190096200-190101400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:190096400-190098600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:190096600-190096800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:190096600-190097000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr2:190096600-190098800	Enhancers	Osteobl	bone
11	chr2:190096600-190101400	Enhancers	NHDF-Ad	bronchial
12	chr2:190096800-190097000	Enhancers	Aorta	Aorta
13	chr2:190096800-190097400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:190097200-190101400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr2:190097400-190097600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:190097400-190098000	Enhancers	GM12878-XiMat	blood
17	chr2:190097400-190098600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr2:190097400-190098800	Enhancers	Hela-S3	cervix
19	chr2:190097400-190101400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr2:190097600-190098400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:190097600-190098600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:190097600-190098800	Enhancers	HMEC	breast
23	chr2:190097800-190098200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:190097800-190098200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr2:190097800-190098400	Flanking Active TSS	A549	lung
26	chr2:190097800-190098600	Enhancers	NHLF	lung
27	chr2:190097800-190098800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:190098000-190098800	Enhancers	NHEK	skin
29	chr2:190098200-190100400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr2:190098400-190098600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr2:190098400-190099600	Enhancers	A549	lung
32	chr2:190098600-190099200	Weak transcription	NHLF	lung
33	chr2:190098600-190100600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:190098600-190100600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr2:190098800-190099600	Weak transcription	Osteobl	bone
36	chr2:190098800-190099800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr2:190098800-190099800	Weak transcription	Hela-S3	cervix
38	chr2:190098800-190099800	Weak transcription	HMEC	breast
39	chr2:190098800-190100800	Weak transcription	NHEK	skin
40	chr2:190099200-190099400	Enhancers	NHLF	lung
41	chr2:190099400-190100800	Weak transcription	NHLF	lung
42	chr2:190099600-190100200	Weak transcription	A549	lung
43	chr2:190099600-190101200	Enhancers	Osteobl	bone
44	chr2:190099800-190100000	Enhancers	Hela-S3	cervix
45	chr2:190099800-190100000	Enhancers	HMEC	breast
46	chr2:190099800-190100000	Enhancers	HSMM	muscle
47	chr2:190099800-190100600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr2:190099800-190100800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr2:190100000-190100400	Weak transcription	HMEC	breast
50	chr2:190100000-190100400	Weak transcription	HSMM	muscle

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