Variant report

Variant	nsv51734
Chromosome Location	chr12:50356182-50356184
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	ZBTB7A	chr12:50355999-50357366	ECC-1	luminal epithelium:	n/a	n/a
2	ZBTB7A	chr12:50355912-50357521	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:50353765..50356841-chr12:50356981..50360242,4	MCF-7	breast:

Variant related genes	Relation type
AQP5	TF binding region
AQP6	TF binding region
ENSG00000161798	chromatin interactions

Extended variants
information (count: 3 )
Associated
traits (count: 69 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3832811	chr12:50356182-50356183	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs371760028	chr12:50356183-50356184	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs397843053	chr12:50356184-50356185	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
low-grade B-cell lymphoma tumor	18367492	CNVD
Adenoid cystic carcinoma	18332873	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
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
Melanoma	20877625	CNVD
Cancer	20164919	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50353000-50357400	Enhancers	HMEC	breast
2	chr12:50353400-50357400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:50353600-50357200	Bivalent Enhancer	Fetal Intestine Small	intestine
4	chr12:50353600-50358400	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr12:50354000-50356200	Bivalent Enhancer	Spleen	Spleen
6	chr12:50354600-50356400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:50354800-50356200	Weak transcription	A549	lung
8	chr12:50354800-50356200	Weak transcription	HSMMtube	muscle
9	chr12:50354800-50356400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:50354800-50356400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
11	chr12:50354800-50357000	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr12:50355200-50356400	Weak transcription	Liver	Liver
13	chr12:50355400-50356200	Weak transcription	Brain Anterior Caudate	brain
14	chr12:50355400-50356200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
15	chr12:50355400-50356400	Weak transcription	Brain Hippocampus Middle	brain
16	chr12:50355400-50356400	Weak transcription	Fetal Heart	heart
17	chr12:50355400-50357200	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr12:50355400-50357600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
19	chr12:50355400-50357800	Bivalent Enhancer	Fetal Muscle Leg	muscle
20	chr12:50355400-50358200	Enhancers	Pancreas	Pancrea
21	chr12:50355400-50361200	Weak transcription	Lung	lung
22	chr12:50355600-50356400	Weak transcription	Fetal Brain Female	brain
23	chr12:50355600-50356400	Weak transcription	HUVEC	blood vessel
24	chr12:50355600-50357400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr12:50355600-50357400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr12:50355600-50357400	Enhancers	Brain Cingulate Gyrus	brain
27	chr12:50355600-50357600	Enhancers	Left Ventricle	heart
28	chr12:50355800-50356400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr12:50355800-50356400	Weak transcription	HSMM	muscle
30	chr12:50355800-50356600	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:50355800-50357400	Enhancers	Right Ventricle	heart
32	chr12:50356000-50356400	Enhancers	Esophagus	oesophagus
33	chr12:50356000-50356400	Enhancers	Hela-S3	cervix
34	chr12:50356000-50356600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
35	chr12:50356000-50356800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
36	chr12:50356000-50356800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr12:50356000-50357000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr12:50356000-50357000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr12:50356000-50357000	Enhancers	Brain Substantia Nigra	brain
40	chr12:50356000-50357000	Weak transcription	Right Atrium	heart
41	chr12:50356000-50357400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr12:50356000-50357400	Bivalent Enhancer	Brain Germinal Matrix	brain
43	chr12:50356000-50357800	Enhancers	Gastric	stomach
44	chr12:50356000-50361000	Weak transcription	Ovary	ovary

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