Variant report

Variant	esv3422753
Chromosome Location	chr2:10856528-10856779
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	POLR2A	chr2:10856571-10856620	HUVEC	blood vessel:	n/a	n/a
2	SPI1	chr2:10856718-10857423	HL-60	blood:	n/a	chr2:10857154-10857167 chr2:10857156-10857165

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:10851166..10853921-chr2:10855403..10857190,3	K562	blood:
2	chr2:10849877..10852516-chr2:10854980..10857706,2	MCF-7	breast:

Variant related genes	Relation type
ATP6V1C2	TF binding region
ENSG00000236162	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536141765	chr2:10856533-10856534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs554649387	chr2:10856534-10856535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs572796171	chr2:10856535-10856536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs539955804	chr2:10856551-10856552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs569553966	chr2:10856552-10856553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs185721842	chr2:10856605-10856606	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs6732644	chr2:10856683-10856684	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs6704577	chr2:10856687-10856688	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs190526623	chr2:10856693-10856694	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201506743	chr2:10856726-10856727	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs199636159	chr2:10856727-10856728	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs200926836	chr2:10856729-10856730	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs116742536	chr2:10856754-10856755	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs60106170	chr2:10856756-10856757	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Mental retardation	17847001	CNVD
Glioblastoma multiforme	21080181	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Cancer	20164920	CNVD
Neuroblastoma	21508638	CNVD
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Ependymoma	16718352	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Glioma	17123091	CNVD
Breast cancer	20409316	CNVD
Multiple myeloma	16616336	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923524	CNVD
Acute myeloid leukemia	21251322	CNVD
Pancreatic cancer	17952125	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10852800-10856600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:10852800-10856800	Weak transcription	NHEK	skin
3	chr2:10852800-10857200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:10853000-10856600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr2:10853000-10856600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:10853000-10856800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:10853000-10856800	Weak transcription	HMEC	breast
8	chr2:10853000-10857600	Weak transcription	Placenta	Placenta
9	chr2:10855000-10858600	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr2:10855800-10856800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr2:10856600-10857200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:10856600-10857600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:10856600-10857600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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