Variant report

Variant	rs6972819
Chromosome Location	chr7:117085002-117085003
allele	G/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	MAFK	chr7:117084935-117085150	HepG2	liver:	n/a	chr7:117085014-117085025

No.	Distal block	Cell Line	Cell type
1	chr7:117080401..117082569-chr7:117084180..117087219,3	K562	blood:
2	chr7:117074197..117078420-chr7:117083146..117089116,5	MCF-7	breast:
3	chr7:117084093..117086526-chr7:117087348..117089207,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000214684	TF binding region
ENSG00000214684	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1029397	0.94[ASW][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10487372	1.00[JPT][hapmap]
rs11978434	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17139830	1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17139859	0.94[ASW][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.96[YRI][hapmap]
rs17139881	1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2228946	1.00[JPT][hapmap]
rs34180375	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34442917	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34624661	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34652497	1.00[ASN][1000 genomes]
rs34849722	1.00[ASN][1000 genomes]
rs34979995	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35071293	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35091062	0.93[EUR][1000 genomes]
rs35604119	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35783977	1.00[ASN][1000 genomes]
rs35915869	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36046385	1.00[ASN][1000 genomes]
rs36143281	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs39317	0.81[LWK][hapmap];0.90[YRI][hapmap]
rs4571678	1.00[JPT][hapmap];0.86[YRI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55728161	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55901305	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58707615	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61711770	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73714649	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73714651	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs989727	1.00[JPT][hapmap];0.82[LWK][hapmap];0.83[YRI][hapmap]

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	nsv889076	chr7:117064625-117147547	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:117082200-117088400	Weak transcription	Pancreas	Pancrea
2	chr7:117084400-117086600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr7:117084600-117085800	Enhancers	HMEC	breast
4	chr7:117085000-117085400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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