Variant report

Variant	rs62010071
Chromosome Location	chr15:82581783-82581784
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs17354185	1.00[ASN][1000 genomes]
rs17356118	1.00[ASN][1000 genomes]
rs17507216	1.00[ASN][1000 genomes]
rs28470877	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28542747	0.83[EUR][1000 genomes]
rs28648832	1.00[ASN][1000 genomes]
rs2867649	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28694364	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28697264	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28876157	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3850610	1.00[ASN][1000 genomes]
rs4778665	1.00[ASN][1000 genomes]
rs4778989	0.85[EUR][1000 genomes]
rs62009918	1.00[ASN][1000 genomes]
rs62011975	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62012003	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62012004	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62012005	1.00[ASN][1000 genomes]
rs62012010	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62012011	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62012043	1.00[ASN][1000 genomes]
rs62012046	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62012047	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62012049	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62012056	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62012059	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62013461	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62013464	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7165536	0.85[EUR][1000 genomes]
rs72751643	1.00[ASN][1000 genomes]
rs7496227	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8026737	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv570245	chr15:82456227-82591082	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1041040	chr15:82465124-82606410	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv1801737	chr15:82468455-82589044	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv904440	chr15:82524544-82591082	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1054025	chr15:82540486-83058214	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	esv3414396	chr15:82581647-82777145	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region CpG island lncRNA	10 gene(s)	inside rSNPs	diseases
7	esv3512406	chr15:82581647-82787145	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region CpG island lncRNA	10 gene(s)	inside rSNPs	diseases
8	esv3512407	chr15:82581647-82787145	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs62010071	RP11-152F13.3	cis	lung	GTEx
rs62010071	RP11-152F13.7	cis	Skin Sun Exposed Lower leg	GTEx
rs62010071	RP13-608F4.1	cis	Esophagus Mucosa	GTEx
rs62010071	AP3B2	cis	Esophagus Mucosa	GTEx
rs62010071	RP11-152F13.3	cis	Skin Sun Exposed Lower leg	GTEx
rs62010071	AP3B2	cis	Artery Tibial	GTEx
rs62010071	AP3B2	cis	lung	GTEx
rs62010071	RP13-608F4.1	cis	Esophagus Muscularis	GTEx
rs62010071	AP3B2	cis	Muscle Skeletal	GTEx
rs62010071	AP3B2	cis	Nerve Tibial	GTEx

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:82580400-82581800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr15:82580800-82581800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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