Variant report

Variant	nsv819425
Chromosome Location	chr12:33708680-33712871
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:33711689..33714048-chr12:33717879..33720013,2	MCF-7	breast:
2	chr12:33590753..33592625-chr12:33706633..33709299,2	K562	blood:
3	chr12:33704309..33707491-chr12:33710515..33713446,4	K562	blood:

Variant related genes	Relation type
ENSG00000110975	chromatin interactions

Extended variants
information (count: 146 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:146 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549328234	chr12:33708702-33708703	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs192852143	chr12:33708738-33708739	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs114063968	chr12:33708824-33708825	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs557529588	chr12:33708858-33708859	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs551242198	chr12:33708917-33708918	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs142574952	chr12:33708947-33708948	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs75831589	chr12:33709012-33709013	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs560451744	chr12:33709154-33709155	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs201923082	chr12:33709155-33709156	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs527501724	chr12:33709172-33709173	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs573587576	chr12:33709183-33709184	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs368700974	chr12:33709200-33709201	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs542891151	chr12:33709341-33709342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183056561	chr12:33709349-33709350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562864259	chr12:33709376-33709377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs116494852	chr12:33709395-33709396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs146463076	chr12:33709396-33709397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549174819	chr12:33709404-33709405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200343340	chr12:33709437-33709438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567792696	chr12:33709476-33709477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140888880	chr12:33709520-33709521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563534979	chr12:33709551-33709552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370126717	chr12:33709578-33709579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs144444536	chr12:33709580-33709581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541202089	chr12:33709592-33709593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561314412	chr12:33709670-33709671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530141129	chr12:33709673-33709674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549266727	chr12:33709678-33709679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569186345	chr12:33709710-33709711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs1905241	chr12:33709729-33709730	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs187736699	chr12:33709772-33709773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs571390111	chr12:33709801-33709802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs533866371	chr12:33709815-33709816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs553613004	chr12:33709879-33709880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs386761980	chr12:33709925-33709926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs114588889	chr12:33709926-33709927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs61927756	chr12:33709931-33709932	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs528908372	chr12:33709957-33709958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs61927757	chr12:33710109-33710110	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs559092223	chr12:33710133-33710134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs572580909	chr12:33710156-33710157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs541490585	chr12:33710170-33710171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs146593001	chr12:33710198-33710199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs530078464	chr12:33710217-33710218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs554065615	chr12:33710235-33710236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs560043853	chr12:33710238-33710239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs367847736	chr12:33710389-33710390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs563717453	chr12:33710403-33710404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs533438684	chr12:33710409-33710410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs1482996	chr12:33710410-33710411	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chordoma	18071362	CNVD
Lung cancer	18438408	CNVD
Cancer	21272361	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Tetralogy of Fallot	22912587	CNVD
Breast cancer	21364760	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:33704800-33714600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:33709800-33710000	Enhancers	H9 Cell Line	embryonic stem cell
3	chr12:33710000-33710600	Enhancers	Placenta Amnion	Placenta Amnion
4	chr12:33710000-33713600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr12:33711200-33711600	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr12:33711600-33713200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr12:33712200-33712400	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr12:33712400-33712600	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr12:33712400-33712600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr12:33712400-33713600	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr12:33712600-33713400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr12:33712800-33713800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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