Variant report

Variant	rs17100133
Chromosome Location	chr1:77736974-77736975
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10493536	0.92[CHB][hapmap]
rs10493537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10493602	0.83[CHB][hapmap];0.88[AMR][1000 genomes]
rs11162319	0.92[CHB][hapmap]
rs1167198	0.92[CHB][hapmap]
rs1167205	0.92[CHB][hapmap]
rs12062754	0.92[CHB][hapmap]
rs12070567	0.83[CHB][hapmap]
rs12076479	0.92[CHB][hapmap]
rs12079185	0.91[CHB][hapmap]
rs12079234	0.91[CHB][hapmap]
rs1616272	0.92[CHB][hapmap]
rs1670611	0.91[CHB][hapmap]
rs1670612	0.92[CHB][hapmap]
rs1670617	0.92[CHB][hapmap]
rs1670618	0.89[CHB][hapmap]
rs17100075	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17100172	0.86[AMR][1000 genomes]
rs17100185	0.92[CHB][hapmap];0.96[AMR][1000 genomes]
rs17100204	0.92[CHB][hapmap];0.96[AMR][1000 genomes]
rs17100317	0.92[CHB][hapmap];0.80[AMR][1000 genomes]
rs17100319	0.92[CHB][hapmap];0.80[AMR][1000 genomes]
rs17100422	0.83[CHB][hapmap]
rs17100440	0.84[CHB][hapmap]
rs1721165	0.92[CHB][hapmap]
rs1779177	0.81[CHB][hapmap]
rs1779178	0.92[CHB][hapmap]
rs1966873	0.88[AMR][1000 genomes]
rs2054017	0.92[CHB][hapmap]
rs2054018	0.92[CHB][hapmap]
rs2602953	0.92[CHB][hapmap]
rs2815313	0.92[CHB][hapmap]
rs28476720	0.86[AMR][1000 genomes]
rs28605112	0.86[AMR][1000 genomes]
rs3962875	0.92[CHB][hapmap];0.88[AMR][1000 genomes]
rs4033035	0.92[CHB][hapmap];0.86[AMR][1000 genomes]
rs4033036	0.91[CHB][hapmap];0.86[AMR][1000 genomes]
rs4033037	0.92[CHB][hapmap];0.86[AMR][1000 genomes]
rs4949653	0.84[CHB][hapmap]
rs6661765	0.92[CHB][hapmap]
rs6665543	0.92[CHB][hapmap];0.86[AMR][1000 genomes]
rs6669724	0.92[CHB][hapmap];0.86[AMR][1000 genomes]
rs6680763	0.92[CHB][hapmap];0.86[AMR][1000 genomes]
rs6683829	0.92[CHB][hapmap];0.86[AMR][1000 genomes]
rs6698996	0.92[CHB][hapmap]
rs6703688	0.92[CHB][hapmap]
rs721514	0.92[CHB][hapmap];0.84[AMR][1000 genomes]
rs72677859	0.86[AMR][1000 genomes]
rs72677889	0.88[AMR][1000 genomes]
rs72679506	0.84[AMR][1000 genomes]
rs72679513	0.84[AMR][1000 genomes]
rs72679514	0.84[AMR][1000 genomes]
rs72679531	0.84[AMR][1000 genomes]
rs7511768	0.81[CHB][hapmap]
rs7517796	0.86[AMR][1000 genomes]
rs7531431	0.92[CHB][hapmap];0.86[AMR][1000 genomes]
rs7534033	0.92[CHB][hapmap];0.86[AMR][1000 genomes]
rs7537603	0.92[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432398	chr1:77707391-77740836	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv1005183	chr1:77728990-77949309	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv535010	chr1:77728990-77949309	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv932557	chr1:77730247-77958687	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17100133	PIGK	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77736400-77740600	Enhancers	NHDF-Ad	bronchial
2	chr1:77736600-77738400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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