Variant report

Variant	rs6999822
Chromosome Location	chr8:61336037-61336038
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10087760	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10092773	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10102945	0.87[ASN][1000 genomes]
rs10504312	0.88[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs11988766	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11988798	0.96[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12548711	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1318227	0.96[CEU][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1552070	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1842388	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1893277	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.83[YRI][hapmap];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1893279	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1941467	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2012856	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2068587	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2155831	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6471873	0.83[CHB][hapmap];0.83[JPT][hapmap]
rs6471877	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6471880	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6471881	0.96[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6982032	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6982404	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs6986664	0.96[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.83[YRI][hapmap];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6994192	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6998307	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7001436	0.88[JPT][hapmap]
rs7004236	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7814226	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7819947	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7824474	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7824671	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7828383	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7831106	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7841648	0.96[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9785091	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6999822	RAB2A	Cis_1M	lymphoblastoid	RTeQTL
rs6999822	RP11-163N6.2	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61336000-61336200	Enhancers	Fetal Intestine Small	intestine
2	chr8:61336000-61336400	Weak transcription	Placenta	Placenta
3	chr8:61336000-61336400	Enhancers	Placenta Amnion	Placenta Amnion

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