Variant report

Variant	rs28506805
Chromosome Location	chr5:68455996-68455997
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	chr5:68452033..68456569-chr5:68461553..68463610,4	K562	blood:
2	chr5:68431059..68433417-chr5:68453828..68456749,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCDC125-11	chr5:68455863-68456123	NONHSAT101889

Variant related genes	Relation type
ENSG00000248664	Chromatin interaction
ENSG00000134057	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs100192	0.93[ASN][1000 genomes]
rs11742461	0.82[ASN][1000 genomes]
rs11744596	0.92[ASN][1000 genomes]
rs11745578	0.82[ASN][1000 genomes]
rs12659146	0.92[ASN][1000 genomes]
rs13175606	0.82[ASN][1000 genomes]
rs151589	0.82[ASN][1000 genomes]
rs163442	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs163443	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs163444	0.82[ASN][1000 genomes]
rs164386	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs164388	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs164389	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs164390	0.87[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs164715	0.82[ASN][1000 genomes]
rs1650779	0.85[ASN][1000 genomes]
rs1683831	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs184747	0.82[ASN][1000 genomes]
rs2002825	0.92[ASN][1000 genomes]
rs2242351	0.92[ASN][1000 genomes]
rs239591	0.86[ASN][1000 genomes]
rs2450246	0.84[ASN][1000 genomes]
rs2637128	0.91[ASN][1000 genomes]
rs2637129	0.87[ASN][1000 genomes]
rs28576332	0.82[ASN][1000 genomes]
rs28693971	0.82[ASN][1000 genomes]
rs2913707	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2930944	0.92[ASN][1000 genomes]
rs2930946	0.92[ASN][1000 genomes]
rs2932767	0.84[ASN][1000 genomes]
rs2932770	0.92[ASN][1000 genomes]
rs2932771	0.92[ASN][1000 genomes]
rs2932777	0.92[ASN][1000 genomes]
rs2932778	0.91[ASN][1000 genomes]
rs2932780	0.87[ASN][1000 genomes]
rs2932783	0.87[ASN][1000 genomes]
rs2972358	0.92[ASN][1000 genomes]
rs2972373	0.92[ASN][1000 genomes]
rs2972374	0.92[ASN][1000 genomes]
rs2972390	0.92[ASN][1000 genomes]
rs34845020	0.90[ASN][1000 genomes]
rs350093	0.85[ASN][1000 genomes]
rs350095	0.90[ASN][1000 genomes]
rs350099	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs350105	0.89[ASN][1000 genomes]
rs350107	0.82[ASN][1000 genomes]
rs350109	0.80[ASN][1000 genomes]
rs350115	0.82[ASN][1000 genomes]
rs350119	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs350120	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs350124	0.92[ASN][1000 genomes]
rs350125	0.90[ASN][1000 genomes]
rs351424	0.85[ASN][1000 genomes]
rs352626	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs353656	0.81[ASN][1000 genomes]
rs375285	0.82[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs376768	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs379106	0.85[ASN][1000 genomes]
rs379434	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs386640	0.82[ASN][1000 genomes]
rs389686	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs389938	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs390169	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs395122	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs419902	0.82[ASN][1000 genomes]
rs437665	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs444305	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs476125	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4976159	0.83[ASN][1000 genomes]
rs4976188	0.83[ASN][1000 genomes]
rs648489	0.93[ASN][1000 genomes]
rs651076	0.86[ASN][1000 genomes]
rs6862253	0.81[ASN][1000 genomes]
rs693725	0.82[ASN][1000 genomes]
rs7719040	0.93[ASN][1000 genomes]
rs875459	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[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
rs28506805	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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