Variant report

Variant	rs2219953
Chromosome Location	chr7:124671915-124671916
allele	G/T
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	CTCF	chr7:124671817-124672031	K562	blood:	n/a	n/a

Variant related genes	Relation type
EEF1GP1	TF binding region

Extended variants
information (count: 187 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:179)

rs_ID	r²[population]
rs10081226	0.88[ASN][1000 genomes]
rs10081265	0.88[ASN][1000 genomes]
rs10081266	0.84[ASN][1000 genomes]
rs10081290	0.86[ASN][1000 genomes]
rs10081336	0.86[ASN][1000 genomes]
rs10081375	0.88[ASN][1000 genomes]
rs1011721	0.90[ASN][1000 genomes]
rs1011722	0.90[ASN][1000 genomes]
rs1011723	0.90[ASN][1000 genomes]
rs1021080	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10227119	0.87[ASN][1000 genomes]
rs10228459	0.86[ASN][1000 genomes]
rs10231355	0.88[ASN][1000 genomes]
rs10231491	0.85[ASN][1000 genomes]
rs10231818	0.88[ASN][1000 genomes]
rs10239507	0.89[ASN][1000 genomes]
rs10243479	0.85[ASN][1000 genomes]
rs10243992	0.88[ASN][1000 genomes]
rs10244797	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10252072	0.86[ASN][1000 genomes]
rs10252579	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10252798	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10255638	0.88[ASN][1000 genomes]
rs10257712	0.88[ASN][1000 genomes]
rs10264288	0.88[ASN][1000 genomes]
rs10264766	0.88[ASN][1000 genomes]
rs1026837	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1026839	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10272889	0.88[ASN][1000 genomes]
rs10274820	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10279816	0.88[ASN][1000 genomes]
rs10280341	0.88[ASN][1000 genomes]
rs1031955	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10500098	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10954050	0.88[ASN][1000 genomes]
rs10954051	0.88[ASN][1000 genomes]
rs10954056	0.88[ASN][1000 genomes]
rs10954062	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11763920	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11767649	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11767737	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11769711	0.88[ASN][1000 genomes]
rs11975363	0.93[ASN][1000 genomes]
rs11981797	0.88[ASN][1000 genomes]
rs12111658	0.88[ASN][1000 genomes]
rs12111660	0.88[ASN][1000 genomes]
rs12112909	0.88[ASN][1000 genomes]
rs12534466	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12536146	0.89[ASN][1000 genomes]
rs12538641	0.89[ASN][1000 genomes]
rs12706629	0.88[ASN][1000 genomes]
rs13231916	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13240043	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13240512	0.88[ASN][1000 genomes]
rs13307657	0.89[ASN][1000 genomes]
rs1351471	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1383749	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1383750	0.93[ASN][1000 genomes]
rs1383751	0.88[ASN][1000 genomes]
rs1481328	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1481329	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1481331	0.88[ASN][1000 genomes]
rs1481332	0.88[ASN][1000 genomes]
rs1481337	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1481338	0.93[ASN][1000 genomes]
rs1481339	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1481340	0.88[ASN][1000 genomes]
rs1481343	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1531715	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1531716	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1552119	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1552120	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1600738	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1600739	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1600740	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1600743	0.88[ASN][1000 genomes]
rs1600745	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1600746	0.88[ASN][1000 genomes]
rs1842615	0.87[ASN][1000 genomes]
rs1842616	0.88[ASN][1000 genomes]
rs1871770	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1994022	0.88[ASN][1000 genomes]
rs1994023	0.88[ASN][1000 genomes]
rs2017928	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2127971	0.89[ASN][1000 genomes]
rs2170353	0.89[ASN][1000 genomes]
rs2402756	0.88[ASN][1000 genomes]
rs2402760	0.88[ASN][1000 genomes]
rs2402762	0.89[ASN][1000 genomes]
rs2402763	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28491035	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28807101	0.89[ASN][1000 genomes]
rs28817916	0.88[ASN][1000 genomes]
rs28820311	0.88[ASN][1000 genomes]
rs2929320	0.93[ASN][1000 genomes]
rs2929323	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2949802	0.93[ASN][1000 genomes]
rs2968867	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs34630567	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34865746	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3900363	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3903521	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3903522	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3903523	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4272297	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4461840	0.86[ASN][1000 genomes]
rs585608	0.90[ASN][1000 genomes]
rs589823	0.85[ASN][1000 genomes]
rs597279	0.90[ASN][1000 genomes]
rs606229	0.85[ASN][1000 genomes]
rs607260	0.85[ASN][1000 genomes]
rs616697	0.90[ASN][1000 genomes]
rs635682	0.90[ASN][1000 genomes]
rs635736	0.85[ASN][1000 genomes]
rs636161	0.85[ASN][1000 genomes]
rs636721	0.85[ASN][1000 genomes]
rs637482	0.90[ASN][1000 genomes]
rs639239	0.85[ASN][1000 genomes]
rs6466963	0.87[ASN][1000 genomes]
rs6466964	0.88[ASN][1000 genomes]
rs6466965	0.88[ASN][1000 genomes]
rs6466966	0.88[ASN][1000 genomes]
rs6466967	0.88[ASN][1000 genomes]
rs6466968	0.88[ASN][1000 genomes]
rs6466969	0.88[ASN][1000 genomes]
rs6466970	0.89[ASN][1000 genomes]
rs6466971	0.88[ASN][1000 genomes]
rs6466972	0.89[ASN][1000 genomes]
rs6466982	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6466990	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6466993	0.86[ASN][1000 genomes]
rs651869	0.85[ASN][1000 genomes]
rs659987	0.90[ASN][1000 genomes]
rs662165	0.90[ASN][1000 genomes]
rs665753	0.85[ASN][1000 genomes]
rs672965	0.90[ASN][1000 genomes]
rs676037	0.90[ASN][1000 genomes]
rs683707	0.90[ASN][1000 genomes]
rs684345	0.85[ASN][1000 genomes]
rs685909	0.85[ASN][1000 genomes]
rs6945951	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6954614	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6964090	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6971179	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6971413	0.89[ASN][1000 genomes]
rs71213274	0.83[ASN][1000 genomes]
rs719972	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7776744	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7776821	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7777126	0.89[ASN][1000 genomes]
rs7779594	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7780392	0.88[ASN][1000 genomes]
rs7782410	0.82[ASN][1000 genomes]
rs7786384	0.88[ASN][1000 genomes]
rs7787025	0.89[ASN][1000 genomes]
rs7787765	0.89[ASN][1000 genomes]
rs7788066	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7788458	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7790975	0.88[ASN][1000 genomes]
rs7791399	0.88[ASN][1000 genomes]
rs7791488	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7795199	0.88[ASN][1000 genomes]
rs7795218	0.88[ASN][1000 genomes]
rs7795233	0.88[ASN][1000 genomes]
rs7795605	0.88[ASN][1000 genomes]
rs7795611	0.88[ASN][1000 genomes]
rs7795934	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7799518	0.88[ASN][1000 genomes]
rs7799523	0.88[ASN][1000 genomes]
rs7799535	0.88[ASN][1000 genomes]
rs7802007	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7802210	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7806126	0.89[ASN][1000 genomes]
rs7806548	0.93[ASN][1000 genomes]
rs900047	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9332427	0.88[ASN][1000 genomes]
rs9690998	0.84[ASN][1000 genomes]
rs9691875	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9692367	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv1016655	chr7:124575684-124684279	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1032336	chr7:124590688-124673373	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv2761363	chr7:124591433-124673373	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1034654	chr7:124591433-124673373	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	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
7	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
8	nsv608343	chr7:124610346-124674022	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2219953	RP11-3B12.1	cis	Artery Aorta	GTEx
rs2219953	RP11-3B12.1	cis	Artery Tibial	GTEx
rs2219953	RP11-3B12.4	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124671000-124672000	Enhancers	Liver	Liver

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