Variant report

Variant	nsv14927
Chromosome Location	chr10:5888742-5888743
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	CEBPB	chr10:5888482-5888964	HepG2	liver:	n/a	chr10:5888800-5888811
2	CEBPB	chr10:5888623-5888905	K562	blood:	n/a	chr10:5888800-5888811
3	CEBPB	chr10:5888650-5888829	K562	blood:	n/a	chr10:5888800-5888811
4	CEBPB	chr10:5888629-5888917	MCF-7	breast:	n/a	chr10:5888800-5888811
5	CEBPB	chr10:5888660-5888839	IMR90	lung:	n/a	chr10:5888800-5888811
6	FOXA1	chr10:5888367-5888842	HepG2	liver:	n/a	chr10:5888546-5888561
7	FOXA2	chr10:5888401-5888783	HepG2	liver:	n/a	n/a
8	ZNF384	chr10:5888509-5888756	K562	blood:	n/a	n/a
9	ZNF384	chr10:5888132-5888753	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:5887749..5890618-chr10:5895657..5897180,2	K562	blood:
2	chr10:5886207..5890565-chr10:5893992..5897304,3	K562	blood:
3	chr10:5887234..5889271-chr10:5891738..5894895,3	K562	blood:

Variant related genes	Relation type
GDI2	TF binding region

Extended variants
information (count: 1 )
Associated
traits (count: 56 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549364303	chr10:5888742-5888743	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Cancer	21129771	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
lymphocytic leukemia	21291569	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Ovarian cancer	22355333	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Gastrointestinal stromal cancer	20818650	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5883200-5897000	Enhancers	Primary B cells from peripheral blood	blood
2	chr10:5883400-5889000	Enhancers	Primary B cells from cord blood	blood
3	chr10:5886200-5889400	Enhancers	Placenta	Placenta
4	chr10:5887000-5888800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr10:5887000-5888800	Enhancers	Fetal Muscle Leg	muscle
6	chr10:5887000-5889400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr10:5887200-5889000	Enhancers	GM12878-XiMat	blood
8	chr10:5887600-5888800	Weak transcription	Fetal Muscle Trunk	muscle
9	chr10:5887800-5888800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr10:5888000-5888800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr10:5888000-5888800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr10:5888000-5888800	Enhancers	HUVEC	blood vessel
13	chr10:5888000-5888800	Enhancers	NHDF-Ad	bronchial
14	chr10:5888000-5889200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr10:5888200-5888800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr10:5888200-5888800	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr10:5888200-5888800	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr10:5888200-5888800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr10:5888200-5888800	Enhancers	Adipose Nuclei	Adipose
20	chr10:5888200-5888800	Enhancers	Fetal Intestine Small	intestine
21	chr10:5888400-5889200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr10:5888400-5889200	Enhancers	Placenta Amnion	Placenta Amnion
23	chr10:5888600-5888800	Enhancers	Hela-S3	cervix
24	chr10:5888600-5889200	Enhancers	HepG2	liver
25	chr10:5888600-5894200	Weak transcription	K562	blood

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