Variant report

Variant	esv3382450
Chromosome Location	chr12:29146224-29146801
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	chr12:29140480..29142850-chr12:29145471..29147468,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7135474	chr12:29146283-29146284	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs118172144	chr12:29146326-29146327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs75052174	chr12:29146335-29146336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs77232963	chr12:29146347-29146348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs386761503	chr12:29146350-29146351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs7306687	chr12:29146352-29146353	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs545733346	chr12:29146379-29146380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544258945	chr12:29146453-29146454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs549532142	chr12:29146487-29146488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs542103234	chr12:29146504-29146505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs563462305	chr12:29146550-29146551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs140204548	chr12:29146635-29146636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs545993159	chr12:29146652-29146653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs564278246	chr12:29146681-29146682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs145518287	chr12:29146784-29146785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs532612114	chr12:29146793-29146794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs77474231	chr12:29146798-29146799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Acute lymphoblastic leukemia	21248843	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 promyelocytic leukemia	19109227	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21364760	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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29141600-29146400	Weak transcription	Adipose Nuclei	Adipose
2	chr12:29141600-29146800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr12:29142600-29146800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr12:29146400-29150200	Enhancers	Adipose Nuclei	Adipose
5	chr12:29146600-29147000	Enhancers	Right Atrium	heart
6	chr12:29146800-29147000	Enhancers	Muscle Satellite Cultured Cells	--
7	chr12:29146800-29147400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr12:29146800-29147800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr12:29146800-29148400	Enhancers	Fetal Lung	lung

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