Variant report

Variant	rs2913707
Chromosome Location	chr5:68455810-68455811
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:68452033..68456569-chr5:68461553..68463610,4	K562	blood:
2	chr5:68431059..68433417-chr5:68453828..68456749,2	K562	blood:

Variant related genes	Relation type
ENSG00000134057	Chromatin interaction
ENSG00000248664	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs100192	0.84[ASN][1000 genomes]
rs11744596	0.83[ASN][1000 genomes]
rs12659146	0.83[ASN][1000 genomes]
rs163442	0.86[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs163443	0.89[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs164386	0.86[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs164388	0.88[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs164389	0.89[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs164390	0.85[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs1683831	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2002825	0.83[ASN][1000 genomes]
rs2242351	0.83[ASN][1000 genomes]
rs2637128	0.82[ASN][1000 genomes]
rs28506805	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2930944	0.83[ASN][1000 genomes]
rs2930946	0.83[ASN][1000 genomes]
rs2932770	0.83[ASN][1000 genomes]
rs2932771	0.83[ASN][1000 genomes]
rs2932777	0.83[ASN][1000 genomes]
rs2932778	0.82[ASN][1000 genomes]
rs2972358	0.83[ASN][1000 genomes]
rs2972373	0.83[ASN][1000 genomes]
rs2972374	0.83[ASN][1000 genomes]
rs2972390	0.83[ASN][1000 genomes]
rs34845020	0.81[ASN][1000 genomes]
rs350095	0.81[ASN][1000 genomes]
rs350099	0.89[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs350105	0.80[ASN][1000 genomes]
rs350119	0.83[ASN][1000 genomes]
rs350120	0.84[ASN][1000 genomes]
rs350124	0.83[ASN][1000 genomes]
rs350125	0.81[ASN][1000 genomes]
rs352626	0.89[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs375285	0.81[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs376768	0.84[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs379434	0.84[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs389686	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs389938	0.84[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs390169	0.80[ASN][1000 genomes]
rs395122	0.87[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs437665	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs444305	0.83[ASN][1000 genomes]
rs476125	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs648489	0.84[ASN][1000 genomes]
rs7719040	0.84[ASN][1000 genomes]
rs875459	0.87[AFR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018151	chr5:68377118-68667581	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv1035004	chr5:68405526-68670101	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv3378789	chr5:68438275-68540725	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2913707	MRPS36	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68443600-68462000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:68453800-68462000	Weak transcription	K562	blood

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