Variant report

Variant	rs6466993
Chromosome Location	chr7:124700573-124700574
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:124699558..124701618-chr7:125055753..125057701,2	K562	blood:
2	chr7:124699688..124701477-chr7:124956011..124957871,2	MCF-7	breast:

Extended variants
information (count: 91 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs1021080	0.85[ASN][1000 genomes]
rs10252579	0.85[ASN][1000 genomes]
rs10252798	0.85[ASN][1000 genomes]
rs1026837	0.86[ASN][1000 genomes]
rs1026839	0.86[ASN][1000 genomes]
rs10274820	0.85[ASN][1000 genomes]
rs1031955	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10500098	0.86[ASN][1000 genomes]
rs10954062	0.85[ASN][1000 genomes]
rs11763920	0.86[ASN][1000 genomes]
rs11767649	0.85[ASN][1000 genomes]
rs11767737	0.85[ASN][1000 genomes]
rs11975363	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12534466	0.86[ASN][1000 genomes]
rs13231916	0.86[ASN][1000 genomes]
rs13240043	0.84[ASN][1000 genomes]
rs1351471	0.86[ASN][1000 genomes]
rs1383749	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1383750	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1481328	0.85[ASN][1000 genomes]
rs1481329	0.85[ASN][1000 genomes]
rs1481337	0.86[ASN][1000 genomes]
rs1481338	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1481339	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1481343	0.86[ASN][1000 genomes]
rs1531715	0.85[ASN][1000 genomes]
rs1531716	0.85[ASN][1000 genomes]
rs1552119	0.85[ASN][1000 genomes]
rs1552120	0.86[ASN][1000 genomes]
rs1600738	0.86[ASN][1000 genomes]
rs1600739	0.86[ASN][1000 genomes]
rs1600740	0.86[ASN][1000 genomes]
rs1871770	0.85[ASN][1000 genomes]
rs2017928	0.89[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2219953	0.86[ASN][1000 genomes]
rs2402763	0.93[ASN][1000 genomes]
rs28491035	0.83[ASN][1000 genomes]
rs2929320	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2929323	0.93[ASN][1000 genomes]
rs2949802	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2968867	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34630567	0.85[ASN][1000 genomes]
rs34865746	0.86[ASN][1000 genomes]
rs35929436	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3900363	0.86[ASN][1000 genomes]
rs3903521	0.86[ASN][1000 genomes]
rs3903522	0.86[ASN][1000 genomes]
rs3903523	0.86[ASN][1000 genomes]
rs4272297	0.85[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs585608	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs589823	0.86[ASN][1000 genomes]
rs597279	0.90[ASN][1000 genomes]
rs606229	0.86[ASN][1000 genomes]
rs607260	0.86[ASN][1000 genomes]
rs616697	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs635682	0.90[ASN][1000 genomes]
rs635736	0.86[ASN][1000 genomes]
rs636161	0.86[ASN][1000 genomes]
rs636721	0.86[ASN][1000 genomes]
rs637482	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs639239	0.86[ASN][1000 genomes]
rs6466967	0.82[AFR][1000 genomes]
rs6466982	0.86[ASN][1000 genomes]
rs6466990	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs651869	0.86[ASN][1000 genomes]
rs659987	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs662165	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs665753	0.86[ASN][1000 genomes]
rs672965	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs676037	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs683707	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs684345	0.86[ASN][1000 genomes]
rs685909	0.86[ASN][1000 genomes]
rs6945951	0.86[ASN][1000 genomes]
rs6954614	0.85[ASN][1000 genomes]
rs6964090	0.87[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs719972	0.85[ASN][1000 genomes]
rs7776821	0.86[ASN][1000 genomes]
rs7779594	0.85[ASN][1000 genomes]
rs7788066	0.86[ASN][1000 genomes]
rs7788458	0.85[ASN][1000 genomes]
rs7795934	0.85[ASN][1000 genomes]
rs7802007	0.85[ASN][1000 genomes]
rs7802210	0.85[ASN][1000 genomes]
rs7806548	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs900047	0.85[ASN][1000 genomes]
rs9691875	0.86[ASN][1000 genomes]
rs9692367	0.85[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	nsv429809	chr7:123937674-124835925	Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
2	nsv889139	chr7:124600505-124767295	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	esv3394090	chr7:124602150-124900799	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6466993	RP11-3B12.1	cis	Artery Aorta	GTEx
rs6466993	RP11-3B12.1	cis	Artery Tibial	GTEx
rs6466993	RP11-3B12.4	cis	Artery Tibial	GTEx

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124698400-124701400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:124699400-124701400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr7:124699600-124701800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr7:124699800-124702800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr7:124699800-124703400	Enhancers	Muscle Satellite Cultured Cells	--
6	chr7:124700000-124700600	Weak transcription	HUVEC	blood vessel

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