Variant report

Variant	esv3328930
Chromosome Location	chr12:31583197-31583671
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	CTCF	chr12:31583640-31583790	NHDF-neo	bronchial:	n/a	n/a
2	RAD21	chr12:31583658-31584120	HCT-116	colon:	n/a	n/a
3	RAD21	chr12:31583593-31583922	H1-hESC	embryonic stem cell:	n/a	n/a
4	RAD21	chr12:31583657-31583941	HCT-116	colon:	n/a	n/a
5	RAD21	chr12:31583602-31584110	A549	lung:	n/a	n/a
6	RAD21	chr12:31583593-31583928	H1-hESC	embryonic stem cell:	n/a	n/a
7	TEAD4	chr12:31583621-31583913	H1-hESC	embryonic stem cell:	n/a	chr12:31583804-31583813

Variant related genes	Relation type
DENND5B	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571566422	chr12:31583208-31583209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs548405484	chr12:31583247-31583248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs376793512	chr12:31583261-31583262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs568331101	chr12:31583287-31583288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs537367431	chr12:31583306-31583307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs557063352	chr12:31583428-31583429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs147468149	chr12:31583429-31583430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs11502783	chr12:31583430-31583431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs147278103	chr12:31583431-31583432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs71062432	chr12:31583458-31583459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570852623	chr12:31583469-31583470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs73080572	chr12:31583475-31583476	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs184581781	chr12:31583476-31583477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs141439790	chr12:31583491-31583492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs150295532	chr12:31583532-31583533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs189547681	chr12:31583540-31583541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs11051427	chr12:31583589-31583590	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs544919913	chr12:31583614-31583615	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs563137071	chr12:31583627-31583628	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs144913051	chr12:31583662-31583663	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs117956438	chr12:31583664-31583665	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
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
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
microdeletion syndrome	16199537	CNVD
Chordoma	18071362	CNVD
Cancer	20164920	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31536400-31624600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:31537400-31604800	Weak transcription	Spleen	Spleen
3	chr12:31539800-31584800	Weak transcription	Fetal Heart	heart
4	chr12:31542200-31583600	Weak transcription	Placenta	Placenta
5	chr12:31542400-31645000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr12:31542600-31605800	Weak transcription	Colon Smooth Muscle	Colon
7	chr12:31544600-31584200	Weak transcription	Fetal Lung	lung
8	chr12:31545800-31583600	Weak transcription	Psoas Muscle	Psoas
9	chr12:31549800-31618000	Weak transcription	Pancreas	Pancrea
10	chr12:31556200-31584800	Weak transcription	NHDF-Ad	bronchial
11	chr12:31556200-31587200	Weak transcription	NH-A	brain
12	chr12:31557200-31623600	Weak transcription	Hela-S3	cervix
13	chr12:31562400-31620600	Weak transcription	Brain Angular Gyrus	brain
14	chr12:31562400-31644400	Weak transcription	Brain Substantia Nigra	brain
15	chr12:31566200-31586000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr12:31567400-31635800	Weak transcription	Osteobl	bone
17	chr12:31567800-31642800	Weak transcription	Brain Hippocampus Middle	brain
18	chr12:31572000-31612600	Weak transcription	HSMM	muscle
19	chr12:31572000-31631200	Weak transcription	Fetal Muscle Trunk	muscle
20	chr12:31572000-31631200	Weak transcription	HSMMtube	muscle
21	chr12:31572400-31589000	Weak transcription	Aorta	Aorta
22	chr12:31572400-31596000	Weak transcription	Lung	lung
23	chr12:31572400-31604800	Weak transcription	Fetal Muscle Leg	muscle
24	chr12:31572400-31620200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr12:31572400-31627400	Weak transcription	Brain Cingulate Gyrus	brain
26	chr12:31572400-31628400	Weak transcription	Right Ventricle	heart
27	chr12:31572400-31631200	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr12:31572600-31584400	Weak transcription	Fetal Kidney	kidney
29	chr12:31572600-31600000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr12:31573400-31597600	Weak transcription	Primary B cells from cord blood	blood
31	chr12:31573800-31584800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr12:31574200-31595200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr12:31574600-31583800	Weak transcription	Fetal Stomach	stomach
34	chr12:31577000-31599000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr12:31577400-31593200	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr12:31577600-31597800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr12:31577600-31600200	Weak transcription	Adipose Nuclei	Adipose
38	chr12:31577800-31583600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr12:31577800-31649400	Weak transcription	Stomach Smooth Muscle	stomach
40	chr12:31578200-31583600	Weak transcription	Ovary	ovary
41	chr12:31578200-31599800	Weak transcription	Brain Germinal Matrix	brain
42	chr12:31578200-31604800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr12:31578400-31584800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr12:31579000-31632000	Weak transcription	Duodenum Mucosa	Duodenum
45	chr12:31579200-31584800	Weak transcription	Brain Anterior Caudate	brain
46	chr12:31579200-31603400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr12:31579200-31605000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr12:31579200-31605000	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr12:31579200-31611800	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr12:31579400-31583600	Weak transcription	A549	lung

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