Variant report

Variant	rs6968619
Chromosome Location	chr7:66068867-66068868
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	chr7:66068353..66070947-chr7:66081695..66083819,2	K562	blood:

Extended variants
information (count: 91 )
Associated
traits (count: 14 )

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10215132	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10234018	0.89[CEU][hapmap];0.95[YRI][hapmap]
rs10242423	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10249404	0.89[CEU][hapmap];0.88[YRI][hapmap];0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10252765	0.89[CEU][hapmap];0.81[CHB][hapmap];0.91[YRI][hapmap]
rs10253883	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10255377	0.82[AMR][1000 genomes]
rs10258739	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10263935	0.90[CEU][hapmap];0.92[YRI][hapmap];0.84[AFR][1000 genomes]
rs10272357	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10272546	0.82[AFR][1000 genomes]
rs10274773	0.84[AFR][1000 genomes]
rs10278371	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10278816	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10281080	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10281646	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10950044	0.89[CEU][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10950045	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11765356	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11772179	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11772264	0.81[AFR][1000 genomes]
rs11773829	0.85[AFR][1000 genomes]
rs12532355	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12532998	0.86[YRI][hapmap]
rs12534943	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13308803	0.81[CEU][hapmap]
rs1553610	0.84[YRI][hapmap]
rs1860468	0.85[AFR][1000 genomes]
rs1860470	0.84[AFR][1000 genomes]
rs1968127	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1968225	0.83[YRI][hapmap]
rs2013222	0.90[CEU][hapmap];0.81[EUR][1000 genomes]
rs2191268	0.90[CEU][hapmap];0.88[YRI][hapmap];0.84[AFR][1000 genomes]
rs2244022	1.00[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap];0.95[YRI][hapmap]
rs2286683	0.90[CEU][hapmap];0.84[AFR][1000 genomes]
rs2286684	0.84[AFR][1000 genomes]
rs2302918	0.90[CEU][hapmap];0.91[YRI][hapmap]
rs2707845	0.86[CEU][hapmap];0.88[YRI][hapmap]
rs2707852	0.81[YRI][hapmap]
rs2707853	0.90[CEU][hapmap];0.92[YRI][hapmap]
rs2707854	0.89[CEU][hapmap];0.81[CHB][hapmap];0.91[YRI][hapmap]
rs2707856	0.89[CEU][hapmap];0.81[CHB][hapmap];0.91[YRI][hapmap]
rs28846700	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35117338	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35986979	0.82[AFR][1000 genomes]
rs3735148	0.85[YRI][hapmap]
rs3764903	0.89[CEU][hapmap];0.81[CHB][hapmap];0.95[YRI][hapmap];0.84[AFR][1000 genomes]
rs3800812	0.90[CEU][hapmap];0.88[YRI][hapmap]
rs3800820	0.88[CEU][hapmap];0.85[CHB][hapmap];0.91[YRI][hapmap]
rs3857686	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3857688	0.83[AFR][1000 genomes]
rs3898855	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4398788	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4718378	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62467809	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62467857	0.81[AMR][1000 genomes]
rs6460305	0.89[CEU][hapmap];0.81[CHB][hapmap];0.91[YRI][hapmap];0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6460308	0.89[CEU][hapmap];0.92[YRI][hapmap]
rs66525610	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6943696	0.89[CEU][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6945019	0.83[YRI][hapmap]
rs6945032	0.83[YRI][hapmap]
rs6947808	0.86[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6952407	0.86[CEU][hapmap];0.92[YRI][hapmap]
rs6958520	0.89[CEU][hapmap];0.81[CHB][hapmap];0.91[YRI][hapmap]
rs6960778	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6961186	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6965056	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6967809	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6977632	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71563125	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs732465	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7357230	0.85[AFR][1000 genomes]
rs7785213	0.84[AFR][1000 genomes]
rs7789768	0.86[YRI][hapmap]
rs7793569	0.90[CEU][hapmap];0.88[YRI][hapmap];0.83[AFR][1000 genomes]
rs7807930	0.83[AFR][1000 genomes]
rs7807944	0.82[AFR][1000 genomes]
rs801190	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs801191	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs801193	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs801196	0.81[AMR][1000 genomes]
rs801205	0.93[CEU][hapmap];0.92[YRI][hapmap]
rs801207	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs801217	0.89[CEU][hapmap];0.91[YRI][hapmap]
rs9986881	0.81[YRI][hapmap]

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	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
2	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
3	nsv1035107	chr7:65814901-66114919	Genic enhancers Strong transcription ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	nsv538909	chr7:65814901-66114919	Strong transcription Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
5	nsv981511	chr7:66067376-66075921	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:14)

SNP	Gene	Cis/trans	Tissue	Source
rs6968619	RP4-756H11.3	cis	Artery Aorta	GTEx
rs6968619	RP4-756H11.3	cis	Adipose Subcutaneous	GTEx
rs6968619	RP4-756H11.3	cis	Esophagus Mucosa	GTEx
rs6968619	RP4-756H11.3	cis	Nerve Tibial	GTEx
rs6968619	RP4-756H11.3	cis	Esophagus Muscularis	GTEx
rs6968619	RP4-756H11.3	cis	Thyroid	GTEx
rs6968619	GS1-124K5.4	cis	Esophagus Mucosa	GTEx
rs6968619	RP4-756H11.3	cis	Skin Sun Exposed Lower leg	GTEx
rs6968619	RP4-756H11.3	cis	Artery Tibial	GTEx
rs6968619	GTF2IRD1P1	cis	Thyroid	GTEx
rs6968619	RP4-756H11.3	cis	lung	GTEx
rs6968619	RP4-756H11.3	cis	Heart Left Ventricle	GTEx
rs6968619	VKORC1L1	Cis_1M	lymphoblastoid	RTeQTL
rs6968619	RP4-756H11.3	cis	Muscle Skeletal	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66068800-66070000	Enhancers	HepG2	liver

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