Variant report

Variant	esv2036663
Chromosome Location	chr12:29995702-29996107
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	chr12:29995160..29997764-chr12:29998716..30001221,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs60515177	chr12:29995718-29995719	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs114119130	chr12:29995725-29995726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs114773689	chr12:29995732-29995733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs74649207	chr12:29995734-29995735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs114142768	chr12:29995746-29995747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs565900405	chr12:29995752-29995753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs544214323	chr12:29995759-29995760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs77313606	chr12:29995760-29995761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs536424966	chr12:29995772-29995773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs190203791	chr12:29995780-29995781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs79601502	chr12:29995862-29995863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs386761571	chr12:29995872-29995873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs115285615	chr12:29995873-29995874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs139277977	chr12:29995884-29995885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs376919285	chr12:29995887-29995888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs201417124	chr12:29995892-29995893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs55644412	chr12:29995894-29995895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs79046102	chr12:29995902-29995903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs373434079	chr12:29995910-29995911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs148445844	chr12:29995914-29995915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs568955612	chr12:29995955-29995956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs139012164	chr12:29995968-29995969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs182479712	chr12:29996024-29996025	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs74080032	chr12:29996070-29996071	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533958933	chr12:29996075-29996076	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs12315716	chr12:29996095-29996096	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
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
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
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	17133270	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29991600-29997600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:29994000-29996600	Enhancers	Fetal Brain Male	brain
3	chr12:29995000-29998000	Enhancers	Fetal Lung	lung
4	chr12:29996000-29996200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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