Variant report

Variant	rs17466223
Chromosome Location	chr3:136398883-136398884
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10513016	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16844056	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17365351	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35644083	1.00[CHB][hapmap]
rs3931416	0.92[CEU][hapmap];1.00[CHB][hapmap]
rs4336059	1.00[CHB][hapmap]
rs55763637	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56218376	0.85[AFR][1000 genomes]
rs56308712	0.81[EUR][1000 genomes]
rs56888009	0.96[EUR][1000 genomes]
rs57466072	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57681357	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58636237	0.82[EUR][1000 genomes]
rs59361983	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs59616231	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59696368	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60014495	0.91[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs66470158	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66471262	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66637228	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66739346	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66902780	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs66973954	0.91[AFR][1000 genomes]
rs67231188	0.91[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67236827	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67281610	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs67303976	0.91[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs67305360	0.91[AFR][1000 genomes]
rs67546863	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs67621498	0.85[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs6765239	1.00[CHB][hapmap]
rs67663578	0.91[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs6773495	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs67794070	0.91[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs67888773	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs67902591	0.82[EUR][1000 genomes]
rs67923745	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6800969	1.00[CHB][hapmap]
rs68018658	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72975363	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73228025	0.89[EUR][1000 genomes]
rs73228037	0.91[EUR][1000 genomes]
rs73228040	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73230052	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73230077	0.85[EUR][1000 genomes]
rs73230078	0.85[EUR][1000 genomes]
rs73230095	0.83[EUR][1000 genomes]
rs73231917	0.81[EUR][1000 genomes]
rs7623824	1.00[CHB][hapmap]
rs7636806	0.91[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs7644471	1.00[CHB][hapmap]
rs7646563	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7646723	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs923001	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9820513	1.00[CHB][hapmap]
rs9869957	1.00[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	nsv460861	chr3:136222954-136425600	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv591851	chr3:136222954-136425600	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1008866	chr3:136364511-136427790	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv877529	chr3:136364511-136487559	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17466223	IL20RB	cis	Nerve Tibial	GTEx

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:136381800-136410800	Weak transcription	Psoas Muscle	Psoas
2	chr3:136386400-136412800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:136387200-136412400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr3:136390200-136413000	Weak transcription	Pancreas	Pancrea
5	chr3:136390600-136412000	Weak transcription	Thymus	Thymus
6	chr3:136390800-136399800	Weak transcription	Fetal Intestine Small	intestine
7	chr3:136390800-136407200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr3:136390800-136447800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr3:136393800-136408400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr3:136394200-136409800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr3:136395000-136404800	Weak transcription	Fetal Heart	heart
12	chr3:136395000-136407600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr3:136395000-136410200	Weak transcription	Small Intestine	intestine
14	chr3:136395000-136418200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr3:136395400-136407600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr3:136396000-136404800	Weak transcription	Left Ventricle	heart
17	chr3:136396600-136400000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr3:136396600-136400000	Weak transcription	Colon Smooth Muscle	Colon
19	chr3:136396600-136400200	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr3:136396600-136407400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr3:136396600-136411800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr3:136398600-136410200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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