Variant report

Variant	rs13225383
Chromosome Location	chr7:65642671-65642672
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:65640707..65643373-chr7:65647388..65648894,2	K562	blood:

Extended variants
information (count: 77 )
Associated
traits (count: 17 )

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs1002053	0.81[EUR][1000 genomes]
rs10215948	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10247043	0.82[EUR][1000 genomes]
rs10253922	0.82[AMR][1000 genomes]
rs10256544	0.81[AMR][1000 genomes]
rs10257427	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10267430	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1144894	0.82[AMR][1000 genomes]
rs1144895	0.81[AMR][1000 genomes]
rs1167395	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1167411	0.81[AMR][1000 genomes]
rs1167612	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1182882	0.85[AMR][1000 genomes]
rs1183245	0.82[AMR][1000 genomes]
rs11971949	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11974219	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11974264	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13229046	0.81[ASN][1000 genomes]
rs13240492	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13247295	0.84[AMR][1000 genomes]
rs13309935	0.82[AMR][1000 genomes]
rs1540651	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1565531	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1695815	0.81[EUR][1000 genomes]
rs1983372	0.81[AFR][1000 genomes]
rs2036264	0.80[EUR][1000 genomes]
rs2087647	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2173570	0.82[EUR][1000 genomes]
rs2220626	0.84[AMR][1000 genomes]
rs2420168	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2420173	0.83[AMR][1000 genomes]
rs2420174	0.83[AMR][1000 genomes]
rs28682868	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2949696	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35028832	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3935391	0.81[EUR][1000 genomes]
rs4718319	0.83[AMR][1000 genomes]
rs55748098	0.83[EUR][1000 genomes]
rs55962648	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6460291	0.80[EUR][1000 genomes]
rs6460292	0.81[EUR][1000 genomes]
rs6945843	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6946143	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6956179	0.80[EUR][1000 genomes]
rs6957690	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6958484	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6960476	0.82[EUR][1000 genomes]
rs6961717	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6963646	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6967708	0.83[AMR][1000 genomes]
rs6971509	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6977501	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs697969	0.85[AMR][1000 genomes]
rs697970	0.84[AMR][1000 genomes]
rs709595	0.81[EUR][1000 genomes]
rs709597	0.81[EUR][1000 genomes]
rs7782806	0.83[AMR][1000 genomes]
rs7783613	0.81[EUR][1000 genomes]
rs778685	0.81[EUR][1000 genomes]
rs778689	0.81[EUR][1000 genomes]
rs778723	0.81[EUR][1000 genomes]
rs778726	0.81[EUR][1000 genomes]
rs778735	0.81[EUR][1000 genomes]
rs7801282	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs780743	0.81[AMR][1000 genomes]
rs780744	0.81[AMR][1000 genomes]
rs780998	0.87[AMR][1000 genomes]
rs875971	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs880166	0.80[AMR][1000 genomes]
rs937495	0.81[EUR][1000 genomes]
rs9969301	0.81[EUR][1000 genomes]
rs9986696	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761079	chr7:65092426-65689733	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
3	nsv1021186	chr7:65492601-65663438	Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv971172	chr7:65616238-65653268	Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases

mRNA abundance (count:17)

SNP	Gene	Cis/trans	Tissue	Source
rs13225383	RP4-756H11.3	cis	Adipose Subcutaneous	GTEx
rs13225383	GS1-124K5.4	cis	Whole Blood	GTEx
rs13225383	RP4-756H11.3	cis	Nerve Tibial	GTEx
rs13225383	RP4-756H11.3	cis	Skin Sun Exposed Lower leg	GTEx
rs13225383	RP4-756H11.3	cis	Esophagus Mucosa	GTEx
rs13225383	RP4-756H11.3	cis	Heart Left Ventricle	GTEx
rs13225383	RP4-756H11.3	cis	Artery Aorta	GTEx
rs13225383	RNU6-96P	cis	Thyroid	GTEx
rs13225383	RP4-756H11.3	cis	lung	GTEx
rs13225383	ASL	Cis_1M	lymphoblastoid	RTeQTL
rs13225383	GTF2IRD1P1	cis	Thyroid	GTEx
rs13225383	GS1-124K5.4	cis	Stomach	GTEx
rs13225383	RP4-756H11.3	cis	Muscle Skeletal	GTEx
rs13225383	RP4-756H11.3	cis	Thyroid	GTEx
rs13225383	RP4-756H11.3	cis	Esophagus Muscularis	GTEx
rs13225383	GS1-124K5.4	cis	Artery Aorta	GTEx
rs13225383	RP4-756H11.3	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65636000-65643200	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr7:65636200-65648200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr7:65636800-65648000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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