Variant report

Variant	rs17814894
Chromosome Location	chr8:61303622-61303623
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:61300352..61302588-chr8:61303599..61306089,2	K562	blood:
2	chr8:61193005..61195471-chr8:61301393..61304721,3	K562	blood:

Variant related genes	Relation type
ENSG00000178538	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10096140	0.82[EUR][1000 genomes]
rs10098769	0.96[CEU][hapmap];0.86[JPT][hapmap];0.91[TSI][hapmap]
rs10102740	0.96[CEU][hapmap];0.86[JPT][hapmap]
rs10808709	0.92[CEU][hapmap];0.86[JPT][hapmap]
rs10957133	0.90[EUR][1000 genomes]
rs10957142	0.83[EUR][1000 genomes]
rs10957144	0.82[EUR][1000 genomes]
rs10957147	1.00[CEU][hapmap];0.85[JPT][hapmap];0.81[EUR][1000 genomes]
rs10957151	0.81[EUR][1000 genomes]
rs11776939	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11995549	0.81[EUR][1000 genomes]
rs11996592	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs12681129	0.81[EUR][1000 genomes]
rs1319104	0.81[EUR][1000 genomes]
rs1319105	0.81[EUR][1000 genomes]
rs13257359	0.83[EUR][1000 genomes]
rs13262390	0.82[EUR][1000 genomes]
rs13265543	0.83[EUR][1000 genomes]
rs13439252	0.81[EUR][1000 genomes]
rs1552071	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1842389	0.89[EUR][1000 genomes]
rs1893272	0.84[EUR][1000 genomes]
rs1941463	0.84[EUR][1000 genomes]
rs2013112	0.82[EUR][1000 genomes]
rs2056415	0.96[CEU][hapmap];0.80[EUR][1000 genomes]
rs2096890	0.81[EUR][1000 genomes]
rs2155829	0.84[EUR][1000 genomes]
rs2186986	0.82[EUR][1000 genomes]
rs2272620	1.00[CEU][hapmap];0.86[JPT][hapmap];0.93[TSI][hapmap];0.83[EUR][1000 genomes]
rs2272621	0.84[JPT][hapmap];0.83[EUR][1000 genomes]
rs2326560	0.96[CEU][hapmap];0.86[JPT][hapmap];0.81[EUR][1000 genomes]
rs2326561	0.96[CEU][hapmap];0.86[JPT][hapmap]
rs2326562	0.96[CEU][hapmap];0.86[JPT][hapmap];0.84[EUR][1000 genomes]
rs2326568	0.96[CEU][hapmap];0.86[JPT][hapmap]
rs2326569	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs2326570	0.81[EUR][1000 genomes]
rs2326571	0.81[EUR][1000 genomes]
rs2875967	0.96[CEU][hapmap];0.86[JPT][hapmap];0.93[TSI][hapmap];0.84[EUR][1000 genomes]
rs2875968	0.96[CEU][hapmap];0.86[JPT][hapmap];0.93[TSI][hapmap];0.84[EUR][1000 genomes]
rs2875973	0.96[CEU][hapmap]
rs2875974	0.96[CEU][hapmap];0.86[JPT][hapmap];0.91[TSI][hapmap];0.81[EUR][1000 genomes]
rs2930040	0.81[EUR][1000 genomes]
rs2946154	0.96[CEU][hapmap];0.80[EUR][1000 genomes]
rs2981277	0.96[CEU][hapmap];0.86[JPT][hapmap];0.91[TSI][hapmap]
rs3735825	0.96[CEU][hapmap];0.86[JPT][hapmap];0.91[TSI][hapmap]
rs3735826	0.96[CEU][hapmap];0.86[JPT][hapmap];0.93[TSI][hapmap];0.81[EUR][1000 genomes]
rs41420549	0.96[CEU][hapmap];0.86[JPT][hapmap];0.93[TSI][hapmap];0.81[EUR][1000 genomes]
rs56294255	0.81[EUR][1000 genomes]
rs586377	0.81[EUR][1000 genomes]
rs617834	0.81[EUR][1000 genomes]
rs6471875	0.90[EUR][1000 genomes]
rs6471885	0.82[EUR][1000 genomes]
rs6471886	0.81[EUR][1000 genomes]
rs6471888	0.82[EUR][1000 genomes]
rs67420552	0.81[EUR][1000 genomes]
rs684066	0.81[EUR][1000 genomes]
rs6984378	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6987084	0.96[CEU][hapmap];0.86[JPT][hapmap]
rs6992869	0.85[EUR][1000 genomes]
rs6995041	0.96[CEU][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7000166	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs7001696	0.83[EUR][1000 genomes]
rs7012181	0.81[EUR][1000 genomes]
rs7013249	0.96[CEU][hapmap];0.86[JPT][hapmap];0.81[EUR][1000 genomes]
rs7815543	0.96[CEU][hapmap];0.82[EUR][1000 genomes]
rs7822169	0.81[EUR][1000 genomes]
rs7824045	0.96[CEU][hapmap];0.82[EUR][1000 genomes]
rs7825612	0.89[EUR][1000 genomes]
rs7827453	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs7829359	0.96[CEU][hapmap];0.86[JPT][hapmap]
rs7830710	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7839474	0.83[EUR][1000 genomes]
rs7839516	0.92[CEU][hapmap];0.86[JPT][hapmap];0.95[TSI][hapmap];0.83[EUR][1000 genomes]
rs7842586	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs9298039	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs948422	0.83[EUR][1000 genomes]
rs9643523	0.96[CEU][hapmap];0.86[JPT][hapmap];0.81[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	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active 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	74 gene(s)	inside rSNPs	diseases
2	nsv1022752	chr8:61095248-61322302	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	esv3371465	chr8:61115030-61356658	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv831334	chr8:61148796-61330190	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv890944	chr8:61252500-61307115	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs17814894	RAB2A	Cis_1M	lymphoblastoid	RTeQTL
rs17814894	RAB2	cis	lesional skin	skin_eQTL
rs17814894	RAB2	cis	uninvolved skin	skin_eQTL
rs17814894	RAB2A	cis	Thyroid	GTEx
rs17814894	RAB2A	cis	multi-tissue	Pritchard
rs17814894	RAB2	cis	normal skin	skin_eQTL
rs17814894	RAB2A	cis	lymphoblastoid	seeQTL

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61302400-61308800	Weak transcription	Brain Hippocampus Middle	brain
2	chr8:61302600-61303800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr8:61302600-61304200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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