Variant report

Variant	esv3431780
Chromosome Location	chr12:41644194-41644454
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184766431	chr12:41644304-41644305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs79086361	chr12:41644317-41644318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs147508716	chr12:41644341-41644342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs558204502	chr12:41644361-41644362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554118853	chr12:41644393-41644394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550327539	chr12:41644395-41644396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs10785186	chr12:41644422-41644423	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs536121558	chr12:41644440-41644441	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs112967120	chr12:41644453-41644454	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Wilms tumour	21544195	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
Ewing''s sarcoma	21437220	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
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Autism	20858243	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Cancer	20164920	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Cancer	20164919	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41636800-41645600	Weak transcription	Aorta	Aorta
2	chr12:41637000-41648200	Weak transcription	Colon Smooth Muscle	Colon
3	chr12:41637800-41651000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr12:41643600-41644400	Weak transcription	Ovary	ovary
5	chr12:41644000-41645000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:41644200-41644400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:41644400-41644600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:41644400-41644600	Flanking Active TSS	Ovary	ovary
9	chr12:41644400-41644800	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr12:41644400-41644800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr12:41644400-41644800	Enhancers	Brain Anterior Caudate	brain
12	chr12:41644400-41645000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:41644400-41645200	Enhancers	NHEK	skin

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