Variant report

Variant	rs12565614
Chromosome Location	chr1:94320037-94320038
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:94311361..94314854-chr1:94317865..94321072,4	K562	blood:
2	chr1:94310889..94314465-chr1:94319424..94321197,3	K562	blood:

Variant related genes	Relation type
ENSG00000211575	Chromatin interaction
ENSG00000137936	Chromatin interaction
ENSG00000260464	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10489602	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10489604	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10782966	0.88[EUR][1000 genomes]
rs10782967	0.88[EUR][1000 genomes]
rs11165020	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11165024	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12027630	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12122113	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12134359	0.87[EUR][1000 genomes]
rs12137687	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12140446	0.86[EUR][1000 genomes]
rs12143274	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12143279	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12563731	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12565817	0.81[EUR][1000 genomes]
rs12566531	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12734571	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12739186	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12745990	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12752298	0.84[EUR][1000 genomes]
rs1884018	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2143990	0.89[EUR][1000 genomes]
rs2235971	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2391322	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2747039	0.88[EUR][1000 genomes]
rs2747041	0.88[EUR][1000 genomes]
rs2747043	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2747045	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2747050	0.88[EUR][1000 genomes]
rs2818160	0.88[EUR][1000 genomes]
rs2818162	0.88[EUR][1000 genomes]
rs2818164	0.89[EUR][1000 genomes]
rs2818169	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3000471	0.89[EUR][1000 genomes]
rs3747965	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4075523	0.88[EUR][1000 genomes]
rs4141736	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4141737	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4240955	0.88[EUR][1000 genomes]
rs4240956	0.88[EUR][1000 genomes]
rs4314890	0.88[EUR][1000 genomes]
rs4847253	0.84[EUR][1000 genomes]
rs4847265	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6664719	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6685747	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7364910	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8179391	0.88[EUR][1000 genomes]
rs871854	0.84[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	esv1822452	chr1:94278128-94320233	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	121 gene(s)	inside rSNPs	diseases
2	nsv998755	chr1:94294015-94341712	Flanking Active TSS Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	121 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs12565614	RP11-488P3.1	cis	Heart Left Ventricle	GTEx
rs12565614	RP11-488P3.1	cis	Adipose Subcutaneous	GTEx
rs12565614	RP11-488P3.1	cis	Skin Sun Exposed Lower leg	GTEx
rs12565614	RP11-488P3.1	cis	lung	GTEx
rs12565614	RP11-488P3.1	cis	Stomach	GTEx
rs12565614	RP11-488P3.1	cis	Thyroid	GTEx
rs12565614	RP11-488P3.1	cis	Muscle Skeletal	GTEx
rs12565614	RP11-488P3.1	cis	Esophagus Muscularis	GTEx
rs12565614	RP11-488P3.1	cis	Artery Tibial	GTEx

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94314200-94332800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr1:94314200-94334200	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr1:94314200-94334400	Weak transcription	Brain Substantia Nigra	brain

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