Variant report

Variant	rs917136
Chromosome Location	chr7:14051321-14051322
allele	A/G
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	chr7:14051050-14054394	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:14027263..14030675-chr7:14047798..14051480,3	K562	blood:

Variant related genes	Relation type
ENSG00000252374	TF binding region
ENSG00000006468	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10251025	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10262618	0.85[AMR][1000 genomes]
rs10263141	0.84[AMR][1000 genomes]
rs11772292	0.84[AMR][1000 genomes]
rs11971058	0.89[JPT][hapmap]
rs11972032	0.89[AMR][1000 genomes]
rs11973792	0.94[CEU][hapmap];0.81[CHB][hapmap];0.83[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11977311	0.82[AMR][1000 genomes]
rs13438227	0.93[CEU][hapmap];0.81[CHB][hapmap];0.83[JPT][hapmap];0.82[AMR][1000 genomes]
rs17167779	0.82[ASN][1000 genomes]
rs2190065	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2190066	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28633703	0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3888604	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4027217	0.84[JPT][hapmap]
rs4308625	0.88[CEU][hapmap];0.81[CHD][hapmap];0.91[MEX][hapmap];0.86[AMR][1000 genomes]
rs4721297	0.94[JPT][hapmap]
rs58361379	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58447577	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62452790	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6944510	0.81[ASN][1000 genomes]
rs6954954	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6969768	0.93[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6970150	0.81[ASW][hapmap];0.94[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.90[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.99[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7785120	0.88[CEU][hapmap]
rs9639172	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9886194	0.81[CEU][hapmap]
rs9886363	0.81[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019873	chr7:13707148-14133367	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv887698	chr7:13841798-14056075	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv949467	chr7:13938464-14279074	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1030645	chr7:14015533-14078153	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv538739	chr7:14015533-14078153	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr7:14050200-14070800	Weak transcription	K562	blood
2	chr7:14051200-14051800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:14051200-14051800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr7:14051200-14052200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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