Variant report

Variant	rs17677599
Chromosome Location	chr9:94945857-94945858
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:94940710..94942408-chr9:94945817..94947948,2	K562	blood:
2	chr9:94939871..94945930-chr9:94946587..94952427,7	K562	blood:

Extended variants
information (count: 100 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs15717	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs16908147	1.00[MKK][hapmap]
rs16908281	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.90[ASN][1000 genomes]
rs17518691	0.90[ASN][1000 genomes]
rs17518754	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs17590748	0.90[ASN][1000 genomes]
rs17678735	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.83[TSI][hapmap];0.90[ASN][1000 genomes]
rs2044540	0.80[ASN][1000 genomes]
rs2230405	1.00[ASN][1000 genomes]
rs2236344	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2273860	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2274967	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[ASN][1000 genomes]
rs28365880	0.90[ASN][1000 genomes]
rs3736834	0.90[ASN][1000 genomes]
rs3736836	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[ASN][1000 genomes]
rs3737147	1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap]
rs3758230	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.90[ASN][1000 genomes]
rs3758231	0.90[ASN][1000 genomes]
rs3758232	0.90[ASN][1000 genomes]
rs3780340	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs3780341	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3780342	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3858097	1.00[CHB][hapmap];0.89[CHD][hapmap]
rs41276835	0.90[ASN][1000 genomes]
rs41277647	0.90[ASN][1000 genomes]
rs41277739	0.80[ASN][1000 genomes]
rs41280223	1.00[ASN][1000 genomes]
rs41307467	1.00[ASN][1000 genomes]
rs41312230	0.90[ASN][1000 genomes]
rs4298540	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs61742574	0.90[ASN][1000 genomes]
rs72750403	1.00[ASN][1000 genomes]
rs72750404	1.00[ASN][1000 genomes]
rs72750405	1.00[ASN][1000 genomes]
rs72750407	1.00[ASN][1000 genomes]
rs72750408	1.00[ASN][1000 genomes]
rs72750409	1.00[ASN][1000 genomes]
rs72750418	1.00[ASN][1000 genomes]
rs72750419	1.00[ASN][1000 genomes]
rs72750420	1.00[ASN][1000 genomes]
rs72750421	1.00[ASN][1000 genomes]
rs72750422	1.00[ASN][1000 genomes]
rs72750426	1.00[ASN][1000 genomes]
rs72750427	1.00[ASN][1000 genomes]
rs72750430	1.00[ASN][1000 genomes]
rs72750431	1.00[ASN][1000 genomes]
rs72750432	1.00[ASN][1000 genomes]
rs72750433	1.00[ASN][1000 genomes]
rs72750434	1.00[ASN][1000 genomes]
rs72750437	1.00[ASN][1000 genomes]
rs72750438	0.86[ASN][1000 genomes]
rs72750441	1.00[ASN][1000 genomes]
rs72750445	0.90[ASN][1000 genomes]
rs72750447	0.90[ASN][1000 genomes]
rs72750448	0.90[ASN][1000 genomes]
rs72750449	0.90[ASN][1000 genomes]
rs72750450	0.90[ASN][1000 genomes]
rs72750451	0.90[ASN][1000 genomes]
rs72750454	0.90[ASN][1000 genomes]
rs72750456	0.90[ASN][1000 genomes]
rs72750457	0.90[ASN][1000 genomes]
rs72750458	0.90[ASN][1000 genomes]
rs72750463	0.90[ASN][1000 genomes]
rs72750465	0.90[ASN][1000 genomes]
rs72750466	0.90[ASN][1000 genomes]
rs72750468	0.90[ASN][1000 genomes]
rs72750469	0.90[ASN][1000 genomes]
rs72750472	0.90[ASN][1000 genomes]
rs72750474	0.90[ASN][1000 genomes]
rs72750477	0.90[ASN][1000 genomes]
rs72750478	0.90[ASN][1000 genomes]
rs72750479	0.90[ASN][1000 genomes]
rs72750482	0.90[ASN][1000 genomes]
rs72750483	0.90[ASN][1000 genomes]
rs72750485	0.90[ASN][1000 genomes]
rs72750487	0.90[ASN][1000 genomes]
rs72750490	0.90[ASN][1000 genomes]
rs72750491	0.90[ASN][1000 genomes]
rs72750493	0.80[ASN][1000 genomes]
rs72750494	0.80[ASN][1000 genomes]
rs72750498	0.80[ASN][1000 genomes]
rs72750500	0.80[ASN][1000 genomes]
rs72750502	0.80[ASN][1000 genomes]
rs72752403	0.80[ASN][1000 genomes]
rs72752404	0.80[ASN][1000 genomes]
rs72752405	0.80[ASN][1000 genomes]
rs72752406	0.80[ASN][1000 genomes]
rs72752411	0.80[ASN][1000 genomes]
rs72752419	0.80[ASN][1000 genomes]
rs72752425	0.80[ASN][1000 genomes]
rs72752427	0.80[ASN][1000 genomes]
rs72752431	0.80[ASN][1000 genomes]
rs7872423	1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap]
rs921122	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949008	chr9:94500776-95182133	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1050845	chr9:94687959-95312406	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv1046733	chr9:94690622-95138564	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv530947	chr9:94697309-95093377	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv917089	chr9:94857047-95099848	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv969760	chr9:94877924-94966209	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs17677599	IL13RA1	trans	lymphoblastoid	seeQTL
rs17677599	WNT5A	trans	lymphoblastoid	seeQTL
rs17677599	PPP3CA	trans	lymphoblastoid	seeQTL

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94943800-94947600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr9:94943800-94949000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr9:94944800-94955800	Weak transcription	Right Atrium	heart
4	chr9:94945000-94946000	Enhancers	K562	blood
5	chr9:94945800-94946200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr9:94945800-94946200	Enhancers	GM12878-XiMat	blood

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