Variant report

Variant	rs12718972
Chromosome Location	chr7:50928058-50928059
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:50924130..50925698-chr7:50927601..50929112,2	K562	blood:
2	chr7:50921376..50923095-chr7:50927701..50929324,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10230084	0.81[CEU][hapmap]
rs1023633	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10242300	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10264737	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12718959	0.81[CEU][hapmap]
rs17454681	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1862946	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1862948	0.82[AMR][1000 genomes]
rs2161825	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs28626771	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35008384	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4947477	0.83[AMR][1000 genomes]
rs4947478	0.83[AMR][1000 genomes]
rs4947936	0.83[AMR][1000 genomes]
rs4947937	0.83[AMR][1000 genomes]
rs4947938	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs4947945	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs6593249	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6593251	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6593252	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7779063	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7802799	0.82[AMR][1000 genomes]
rs9642401	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9656704	0.84[AFR][1000 genomes];0.83[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	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv606907	chr7:50899168-51195380	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50926200-50934600	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr7:50926200-50935600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:50927000-50935600	Weak transcription	Pancreas	Pancrea

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