Variant report

Variant	esv3361349
Chromosome Location	chr2:31565348-31567796
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	chr2:31566732..31568307-chr2:31571082..31573649,2	MCF-7	breast:

Extended variants
information (count: 140 )
Associated
traits (count: 62 )

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	rs12614330	chr2:31565360-31565361	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs45598233	chr2:31565365-31565366	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs564634184	chr2:31565377-31565378	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576616346	chr2:31565406-31565407	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs142931410	chr2:31565423-31565424	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs559173153	chr2:31565426-31565427	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528389807	chr2:31565432-31565433	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548133796	chr2:31565438-31565439	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs45471493	chr2:31565439-31565440	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs530555092	chr2:31565466-31565467	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369244403	chr2:31565468-31565469	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550400151	chr2:31565472-31565473	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183080554	chr2:31565476-31565477	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186461005	chr2:31565486-31565487	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs75512957	chr2:31565494-31565495	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564821604	chr2:31565502-31565503	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547220115	chr2:31565525-31565526	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567143796	chr2:31565528-31565529	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11465197	chr2:31565576-31565577	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs397828759	chr2:31565577-31565578	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs74605038	chr2:31565578-31565579	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200790389	chr2:31565579-31565580	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201495632	chr2:31565581-31565582	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs45564545	chr2:31565603-31565604	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs199802633	chr2:31565604-31565605	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528114881	chr2:31565605-31565606	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536174257	chr2:31565647-31565648	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556061096	chr2:31565654-31565655	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575531044	chr2:31565686-31565687	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538286978	chr2:31565715-31565716	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190503558	chr2:31565716-31565717	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577716904	chr2:31565762-31565763	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545564000	chr2:31565807-31565808	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559136357	chr2:31565828-31565829	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs147435994	chr2:31565946-31565947	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs207447	chr2:31566003-31566004	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs207448	chr2:31566022-31566023	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs13011035	chr2:31566026-31566027	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111830531	chr2:31566076-31566077	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369594399	chr2:31566086-31566087	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564125391	chr2:31566090-31566091	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533083293	chr2:31566091-31566092	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547183339	chr2:31566095-31566096	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs169596	chr2:31566124-31566125	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs376738948	chr2:31566170-31566171	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200621688	chr2:31566171-31566172	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201594245	chr2:31566172-31566173	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529785037	chr2:31566174-31566175	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201183844	chr2:31566176-31566177	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs35796160	chr2:31566179-31566180	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Medulloblastoma	16968546	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	18927303	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	16740712	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31548000-31634600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:31557200-31579600	Strong transcription	Liver	Liver
3	chr2:31558200-31573200	Strong transcription	Fetal Intestine Large	intestine
4	chr2:31559600-31565600	Strong transcription	Duodenum Mucosa	Duodenum
5	chr2:31560400-31576800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr2:31560800-31570800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:31560800-31599800	Weak transcription	Esophagus	oesophagus
8	chr2:31561200-31569800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:31561600-31570400	Weak transcription	NHLF	lung
10	chr2:31563800-31565600	Strong transcription	Placenta	Placenta
11	chr2:31563800-31572800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:31563800-31576600	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr2:31564400-31567200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr2:31564400-31579600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:31564600-31567200	Weak transcription	Fetal Intestine Small	intestine
16	chr2:31564600-31573200	Strong transcription	HMEC	breast
17	chr2:31565000-31573600	Strong transcription	NHEK	skin
18	chr2:31565200-31569400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr2:31565200-31633000	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr2:31565600-31567200	Weak transcription	Duodenum Mucosa	Duodenum
21	chr2:31565600-31572200	Weak transcription	Placenta	Placenta
22	chr2:31567200-31573000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr2:31567200-31573200	Strong transcription	Duodenum Mucosa	Duodenum
24	chr2:31567200-31573600	Strong transcription	Fetal Intestine Small	intestine

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