Variant report

Variant	esv33293
Chromosome Location	chr3:162701680-162704920
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	chr3:162692633..162695202-chr3:162700914..162703834,2	MCF-7	breast:

Extended variants
information (count: 122 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:122 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73027113	chr3:162702210-162702211	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs373566482	chr3:162702252-162702253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs148299279	chr3:162702270-162702271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs533514103	chr3:162702276-162702277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs550942476	chr3:162702277-162702278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs570818540	chr3:162702285-162702286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs73027114	chr3:162702288-162702289	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs62396436	chr3:162702310-162702311	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs13073109	chr3:162702373-162702374	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs181365733	chr3:162702377-162702378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs79209590	chr3:162702430-162702431	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs73027116	chr3:162702452-162702453	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs568337365	chr3:162702469-162702470	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs144318752	chr3:162702499-162702500	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs536909864	chr3:162702505-162702506	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs556921928	chr3:162702508-162702509	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs530637672	chr3:162702547-162702548	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs150854659	chr3:162702562-162702563	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs13073496	chr3:162702569-162702570	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs539160693	chr3:162702592-162702593	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs552632687	chr3:162702607-162702608	Weak transcription ZNF genes & repeats Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs13096471	chr3:162702609-162702610	Weak transcription ZNF genes & repeats Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs544362048	chr3:162702611-162702612	Weak transcription ZNF genes & repeats Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs201199872	chr3:162702626-162702627	Weak transcription ZNF genes & repeats Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs144990247	chr3:162702630-162702631	Weak transcription ZNF genes & repeats Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs139342541	chr3:162702648-162702649	Weak transcription ZNF genes & repeats Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs114022027	chr3:162702660-162702661	Weak transcription ZNF genes & repeats Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs534307622	chr3:162702716-162702717	Weak transcription ZNF genes & repeats Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs544531134	chr3:162702719-162702720	Weak transcription ZNF genes & repeats Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs564488951	chr3:162702746-162702747	Weak transcription ZNF genes & repeats Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs9822393	chr3:162702771-162702772	Weak transcription ZNF genes & repeats Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs9822407	chr3:162702783-162702784	Weak transcription ZNF genes & repeats Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs560565451	chr3:162702784-162702785	Weak transcription ZNF genes & repeats Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs144379051	chr3:162702813-162702814	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs9822721	chr3:162702814-162702815	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs556653526	chr3:162702893-162702894	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs539143822	chr3:162702969-162702970	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs374734024	chr3:162702972-162702973	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs186032724	chr3:162703003-162703004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537375666	chr3:162703046-162703047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560488714	chr3:162703053-162703054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs74738744	chr3:162703067-162703068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570146499	chr3:162703166-162703167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs1488169	chr3:162703180-162703181	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs376177448	chr3:162703181-162703182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572974641	chr3:162703225-162703226	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs1488170	chr3:162703243-162703244	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs572595168	chr3:162703261-162703262	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs146133763	chr3:162703310-162703311	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs555929728	chr3:162703322-162703323	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Sudden cardiac death	19188705	CNVD
Mantle cell lymphoma	19029149	CNVD
Malformation	19546859	CNVD
Schizophrenia	19546859	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:162702200-162702600	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr3:162702400-162702600	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr3:162702400-162702800	Enhancers	Aorta	Aorta
4	chr3:162702400-162702800	Active TSS	Hela-S3	cervix
5	chr3:162702400-162703000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr3:162702600-162702800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
7	chr3:162702600-162703200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr3:162703200-162704800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
9	chr3:162704800-162707800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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