Variant report

Variant	rs6732479
Chromosome Location	chr2:56175278-56175279
allele	A/T
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	SIN3AK20	chr2:56174908-56175481	MCF-7	breast:	n/a	n/a
2	TCF7L2	chr2:56174837-56175370	PANC-1	pancreas:	n/a	n/a
3	GATA3	chr2:56174967-56175313	MCF-7	breast:	n/a	n/a
4	RCOR1	chr2:56174744-56176022	Hela-S3	cervix:	n/a	n/a
5	GATA3	chr2:56174804-56175321	MCF-7	breast:	n/a	n/a
6	CEBPB	chr2:56174729-56176073	Hela-S3	cervix:	n/a	chr2:56175877-56175888 chr2:56175833-56175845 chr2:56175875-56175886
7	TCF7L2	chr2:56175037-56175740	HEK293	kidney:	n/a	n/a
8	ZKSCAN1	chr2:56174798-56175394	Hela-S3	cervix:	n/a	n/a
9	KAP1	chr2:56174782-56175618	U2OS	brain:	n/a	n/a
10	EP300	chr2:56174729-56175470	Hela-S3	cervix:	n/a	chr2:56175186-56175199 chr2:56174978-56174992

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:56174984..56177810-chr2:56181564..56184235,2	K562	blood:
2	chr2:56169478..56172187-chr2:56174953..56177671,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272180	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11694304	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12617071	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12713310	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1432562	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1465684	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17047355	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17279016	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2163714	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2903839	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4671264	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62164500	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62164511	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62164513	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6710105	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6718634	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6721284	0.83[ASN][1000 genomes]
rs6749890	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6752225	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72811742	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7563487	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv874161	chr2:56154316-56203798	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56171000-56176400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr2:56171000-56185000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:56171200-56176400	Weak transcription	NHEK	skin
4	chr2:56174400-56176000	Enhancers	Adipose Nuclei	Adipose
5	chr2:56174600-56176400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:56174800-56176400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:56174800-56176400	Enhancers	Osteobl	bone
8	chr2:56174800-56177000	Enhancers	Hela-S3	cervix
9	chr2:56175000-56175400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:56175000-56177000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:56175000-56177000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:56175200-56175400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
13	chr2:56175200-56175600	Enhancers	HUVEC	blood vessel
14	chr2:56175200-56176400	Weak transcription	Fetal Kidney	kidney

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