Variant report

Variant	rs11707895
Chromosome Location	chr3:47574937-47574938
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	chr3:47573030..47576017-chr3:47582888..47584561,3	K562	blood:
2	chr3:47574471..47577289-chr3:47582862..47584561,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11130128	0.85[EUR][1000 genomes]
rs11130129	0.85[EUR][1000 genomes]
rs11130132	0.93[EUR][1000 genomes]
rs11130133	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11130137	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11711265	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11713413	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11716763	0.88[EUR][1000 genomes]
rs11914795	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11914913	0.90[EUR][1000 genomes]
rs11914932	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12489046	0.87[EUR][1000 genomes]
rs12490058	0.92[EUR][1000 genomes]
rs12492433	0.87[EUR][1000 genomes]
rs12630641	0.93[EUR][1000 genomes]
rs13059519	0.94[EUR][1000 genomes]
rs1564760	0.93[ASN][1000 genomes]
rs1564761	0.82[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs17784882	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1872166	0.83[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs2101247	0.85[EUR][1000 genomes]
rs2291298	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34634681	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3816779	0.93[EUR][1000 genomes]
rs4599332	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4858856	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4858894	0.83[EUR][1000 genomes]
rs59586735	0.88[EUR][1000 genomes]
rs60369822	0.83[EUR][1000 genomes]
rs62248599	0.86[EUR][1000 genomes]
rs62248603	0.82[EUR][1000 genomes]
rs62248605	0.88[EUR][1000 genomes]
rs62260710	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62260711	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62260741	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6765990	0.94[EUR][1000 genomes]
rs6768879	0.90[ASN][1000 genomes]
rs6790763	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6792488	0.84[EUR][1000 genomes]
rs73081205	0.86[EUR][1000 genomes]
rs7628631	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7649234	0.85[EUR][1000 genomes]
rs7651194	0.94[EUR][1000 genomes]
rs878659	0.85[EUR][1000 genomes]
rs9683033	0.85[EUR][1000 genomes]
rs9683177	0.85[EUR][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	nsv876756	chr3:47002931-47586514	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	esv33034	chr3:47565429-47578605	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11707895	SETD2	Cis_1M	lymphoblastoid	RTeQTL
rs11707895	KLHL18	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47570000-47575000	Weak transcription	HMEC	breast
2	chr3:47570000-47575000	Weak transcription	NHEK	skin
3	chr3:47574400-47575800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr3:47574800-47575600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr3:47574800-47575800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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