Variant report

Variant	rs476125
Chromosome Location	chr5:68456839-68456840
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr5:68456606-68456878	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
RN7SL103P	TF binding region

Extended variants
information (count: 79 )
Associated
traits (count: 2 )

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	0.96[ASN][1000 genomes]
rs163443	0.95[ASN][1000 genomes]
rs163444	0.82[ASN][1000 genomes]
rs164386	0.96[ASN][1000 genomes]
rs164388	0.95[ASN][1000 genomes]
rs164389	0.92[ASN][1000 genomes]
rs164390	0.96[ASN][1000 genomes]
rs164715	0.82[ASN][1000 genomes]
rs1650779	0.85[ASN][1000 genomes]
rs1683831	0.92[AMR][1000 genomes];0.99[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]
rs28506805	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28576332	0.82[ASN][1000 genomes]
rs28693971	0.82[ASN][1000 genomes]
rs2913707	0.89[AMR][1000 genomes];0.96[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	0.96[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	0.92[ASN][1000 genomes]
rs350120	0.93[ASN][1000 genomes]
rs350124	0.92[ASN][1000 genomes]
rs350125	0.90[ASN][1000 genomes]
rs351424	0.85[ASN][1000 genomes]
rs352626	0.96[ASN][1000 genomes]
rs353656	0.81[ASN][1000 genomes]
rs375285	0.93[ASN][1000 genomes]
rs376768	0.95[ASN][1000 genomes]
rs379106	0.85[ASN][1000 genomes]
rs379434	0.95[ASN][1000 genomes]
rs386640	0.82[ASN][1000 genomes]
rs389686	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs389938	0.95[ASN][1000 genomes]
rs390169	0.89[ASN][1000 genomes]
rs395122	0.95[ASN][1000 genomes]
rs419902	0.82[ASN][1000 genomes]
rs437665	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs444305	0.92[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	0.95[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs476125	CCDC125	cis	Muscle Skeletal	GTEx
rs476125	MRPS36	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:3 , 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
3	chr5:68456600-68457200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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