Variant report

Variant	esv3382883
Chromosome Location	chr12:50746238-50746655
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR3C1	chr12:50745879-50746445	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:50728708..50730581-chr12:50746052..50748839,2	K562	blood:

Variant related genes	Relation type
FAM186A	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372930528	chr12:50746271-50746272	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs545688941	chr12:50746283-50746284	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs189990959	chr12:50746312-50746313	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs71459098	chr12:50746320-50746321	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs7304951	chr12:50746348-50746349	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs199626368	chr12:50746352-50746353	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs550883696	chr12:50746360-50746361	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs567893686	chr12:50746362-50746363	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs76768594	chr12:50746372-50746373	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs562275454	chr12:50746410-50746411	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs546296194	chr12:50746424-50746425	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs566094479	chr12:50746434-50746435	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs529495499	chr12:50746477-50746478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs71466905	chr12:50746514-50746515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs538228487	chr12:50746547-50746548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs558168593	chr12:50746578-50746579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs190186972	chr12:50746583-50746584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs568804579	chr12:50746586-50746587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs371243180	chr12:50746619-50746620	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs374440238	chr12:50746620-50746621	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs554422576	chr12:50746651-50746652	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs181694910	chr12:50746655-50746656	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
T-cell prolymphocytic leukemia	19278963	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
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
Cancer	17160897	CNVD
Breast cancer	21858162	CNVD
Urothelial carcinoma	21177765	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50743200-50747200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:50743600-50747800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:50745200-50746800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:50745400-50747200	Weak transcription	Ovary	ovary
5	chr12:50745400-50747600	Weak transcription	Adipose Nuclei	Adipose
6	chr12:50745600-50747000	Weak transcription	HepG2	liver
7	chr12:50745600-50747200	Weak transcription	Stomach Mucosa	stomach
8	chr12:50745600-50747200	Weak transcription	NHDF-Ad	bronchial
9	chr12:50745600-50747600	Weak transcription	Placenta	Placenta
10	chr12:50745600-50747800	Weak transcription	Fetal Intestine Small	intestine
11	chr12:50745800-50746600	Weak transcription	Spleen	Spleen
12	chr12:50746400-50747200	Enhancers	Dnd41	blood
13	chr12:50746600-50746800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr12:50746600-50746800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr12:50746600-50747800	Enhancers	Spleen	Spleen

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