Variant report

Variant	esv3348210
Chromosome Location	chr2:233898208-233902906
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	chr2:233902627..233904530-chr2:233906961..233909218,2	MCF-7	breast:

Extended variants
information (count: 272 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:272 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530746177	chr2:233898243-233898244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs139730661	chr2:233898244-233898245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564575315	chr2:233898265-233898266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs567754267	chr2:233898268-233898269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs149265906	chr2:233898273-233898274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191440932	chr2:233898299-233898300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs182794053	chr2:233898404-233898405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs11681712	chr2:233898417-233898418	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs144513717	chr2:233898435-233898436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs575715224	chr2:233898504-233898505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs544792874	chr2:233898515-233898516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs554910533	chr2:233898519-233898520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs185939701	chr2:233898520-233898521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs542346989	chr2:233898521-233898522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs190598179	chr2:233898539-233898540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs148433836	chr2:233898569-233898570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs528094115	chr2:233898600-233898601	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs544867860	chr2:233898606-233898607	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs183217168	chr2:233898609-233898610	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs11683026	chr2:233898653-233898654	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs189212066	chr2:233898678-233898679	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs35601609	chr2:233898691-233898692	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs57334778	chr2:233898702-233898703	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs550452231	chr2:233898707-233898708	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs566844536	chr2:233898741-233898742	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs539051920	chr2:233898759-233898760	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs552555807	chr2:233898779-233898780	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs569529469	chr2:233898853-233898854	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs146336403	chr2:233898857-233898858	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs141846686	chr2:233898871-233898872	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs144970536	chr2:233898872-233898873	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs202149799	chr2:233898882-233898883	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs140090973	chr2:233898902-233898903	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs2233387	chr2:233898903-233898904	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs201616110	chr2:233898908-233898909	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs2233388	chr2:233898918-233898919	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs200184666	chr2:233898945-233898946	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs2233389	chr2:233898951-233898952	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs372036961	chr2:233898953-233898954	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs560597673	chr2:233898987-233898988	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs575487240	chr2:233898989-233898990	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs140403218	chr2:233898992-233898993	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs2233390	chr2:233899057-233899058	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs200301557	chr2:233899059-233899060	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs557690761	chr2:233899069-233899070	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs369918752	chr2:233899072-233899073	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs141029510	chr2:233899077-233899078	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs113887175	chr2:233899079-233899080	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs139078223	chr2:233899106-233899107	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs374643414	chr2:233899107-233899108	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	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
Pancreatic cancer	17952125	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233864400-233902800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:233888400-233900200	Weak transcription	Esophagus	oesophagus
3	chr2:233891600-233900200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr2:233896400-233898600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr2:233896400-233899000	Enhancers	HSMMtube	muscle
6	chr2:233896600-233898800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:233897000-233899000	Enhancers	Osteobl	bone
8	chr2:233897200-233899000	Enhancers	HSMM	muscle
9	chr2:233897200-233899400	Enhancers	HMEC	breast
10	chr2:233897400-233899000	Enhancers	NHDF-Ad	bronchial
11	chr2:233897400-233899200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:233897400-233899400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:233897600-233899000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr2:233897600-233900200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:233897800-233899200	Enhancers	Muscle Satellite Cultured Cells	--
16	chr2:233898000-233899200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:233898000-233899200	Enhancers	NHEK	skin
18	chr2:233898200-233898800	Enhancers	NHLF	lung
19	chr2:233898200-233899000	Enhancers	NH-A	brain
20	chr2:233898200-233899400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr2:233898600-233899200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr2:233899000-233899400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr2:233899000-233901800	Weak transcription	Osteobl	bone
24	chr2:233899200-233900200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr2:233899400-233900200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr2:233899400-233901800	Weak transcription	HMEC	breast
27	chr2:233900200-233900600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr2:233900200-233900800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
29	chr2:233900200-233900800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr2:233900200-233900800	Enhancers	Pancreas	Pancrea
31	chr2:233900200-233901000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr2:233900200-233901000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:233900200-233901000	ZNF genes & repeats	Esophagus	oesophagus
34	chr2:233900200-233901000	ZNF genes & repeats	Fetal Kidney	kidney
35	chr2:233900200-233901000	Active TSS	Fetal Lung	lung
36	chr2:233900400-233900600	Enhancers	Spleen	Spleen
37	chr2:233900600-233900800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr2:233900800-233901000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr2:233900800-233909400	Weak transcription	Spleen	Spleen
40	chr2:233901000-233901200	Weak transcription	Esophagus	oesophagus
41	chr2:233901000-233901800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr2:233901000-233901800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr2:233901200-233901400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:233901200-233901400	Enhancers	Esophagus	oesophagus
45	chr2:233901800-233902200	Enhancers	HMEC	breast
46	chr2:233902000-233902200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr2:233902000-233902200	Enhancers	Osteobl	bone

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