Variant report

Variant	rs2008469
Chromosome Location	chr17:38816595-38816596
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:38799895..38802542-chr17:38816352..38818435,2	K562	blood:

Variant related genes	Relation type
ENSG00000073584	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1029792	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1048572	0.90[EUR][1000 genomes]
rs1048573	0.90[EUR][1000 genomes]
rs12943859	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2014704	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2109223	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2159430	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2253717	0.80[ASN][1000 genomes]
rs2315020	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2429549	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2462962	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2462963	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2462964	0.82[ASN][1000 genomes]
rs2462970	0.80[ASN][1000 genomes]
rs2469818	0.81[ASN][1000 genomes]
rs3752026	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4890093	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4890119	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6503547	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6503549	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7209467	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7209735	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7210983	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7212255	0.80[ASN][1000 genomes]
rs7219483	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7223332	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7223354	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs726848	0.80[ASN][1000 genomes]
rs758630	0.80[ASN][1000 genomes]
rs8068721	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8076587	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs917593	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs917595	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9896791	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9900324	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9906785	0.90[EUR][1000 genomes]
rs9915135	0.90[EUR][1000 genomes]

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	nsv574994	chr17:38719799-38824636	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv2758454	chr17:38748300-38850104	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	esv2758689	chr17:38748300-38850104	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv431626	chr17:38770965-38999722	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv908225	chr17:38776406-38868480	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2008469	KRT222	cis	Nerve Tibial	GTEx
rs2008469	KRT24	cis	Esophagus Mucosa	GTEx
rs2008469	CCR7	Cis_1M	lymphoblastoid	RTeQTL
rs2008469	SMARCE1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38805400-38821200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr17:38805600-38819400	Weak transcription	Spleen	Spleen
3	chr17:38805600-38820600	Weak transcription	Brain Anterior Caudate	brain
4	chr17:38805600-38821000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr17:38808400-38821000	Weak transcription	Fetal Intestine Small	intestine
6	chr17:38809600-38819600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr17:38810000-38819400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr17:38810000-38820800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr17:38813600-38819600	Weak transcription	Brain Angular Gyrus	brain
10	chr17:38815800-38816600	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr17:38815800-38816600	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr17:38815800-38816600	Strong transcription	Liver	Liver
13	chr17:38815800-38816800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr17:38816000-38816600	Enhancers	Primary T cells from cord blood	blood
15	chr17:38816000-38816600	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr17:38816400-38816600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
17	chr17:38816400-38816800	Enhancers	Primary T cells fromperipheralblood	blood

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