Variant report

Variant	rs4768876
Chromosome Location	chr12:51432055-51432056
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:51422213..51424368-chr12:51428694..51432123,3	MCF-7	breast:
2	chr12:51431543..51432224-chr12:51441439..51442049,2	Hela-S3	cervix:
3	chr12:51429769..51432512-chr12:51476102..51478161,2	K562	blood:

Variant related genes	Relation type
ENSG00000110911	Chromatin interaction
ENSG00000110925	Chromatin interaction
ENSG00000050426	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1079521	0.87[AMR][1000 genomes]
rs12580097	0.84[EUR][1000 genomes]
rs12582592	0.84[EUR][1000 genomes]
rs17125258	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17125286	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17125346	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17125369	0.84[EUR][1000 genomes]
rs17125375	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17125401	0.81[EUR][1000 genomes]
rs224446	0.82[AMR][1000 genomes]
rs224454	0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs224568	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs224587	0.82[AMR][1000 genomes]
rs2269684	0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2269685	0.87[AMR][1000 genomes]
rs2269686	0.82[AMR][1000 genomes]
rs3759406	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs453313	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4768869	0.84[AMR][1000 genomes]
rs55679918	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55864652	0.82[EUR][1000 genomes]
rs55871024	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs55897461	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55987825	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56060103	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56335028	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56353532	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56847302	0.84[EUR][1000 genomes]
rs60910794	0.84[EUR][1000 genomes]
rs61005916	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs67466786	0.84[EUR][1000 genomes]
rs73090660	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73090661	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73092534	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73103154	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73105025	0.84[EUR][1000 genomes]
rs7397054	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7397068	0.82[AMR][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	esv3414501	chr12:51174503-51534707	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	esv34039	chr12:51326702-51671911	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4768876	TFCP2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51430400-51434800	Weak transcription	Fetal Intestine Large	intestine
2	chr12:51431400-51432800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr12:51431800-51432600	Enhancers	Muscle Satellite Cultured Cells	--
4	chr12:51431800-51432600	Enhancers	HepG2	liver
5	chr12:51431800-51432600	Enhancers	HUVEC	blood vessel
6	chr12:51431800-51432600	Enhancers	NHDF-Ad	bronchial
7	chr12:51431800-51432800	Enhancers	HMEC	breast
8	chr12:51431800-51432800	Enhancers	NHEK	skin
9	chr12:51431800-51434000	Enhancers	Hela-S3	cervix
10	chr12:51432000-51432400	Enhancers	Stomach Mucosa	stomach
11	chr12:51432000-51432400	Enhancers	Osteobl	bone
12	chr12:51432000-51432600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr12:51432000-51432600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr12:51432000-51432800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr12:51432000-51434000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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