Variant report

Variant	rs7122422
Chromosome Location	chr11:10067262-10067263
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 140 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:137)

rs_ID	r²[population]
rs10128601	0.89[EUR][1000 genomes]
rs10160247	0.94[CHB][hapmap]
rs10160669	0.94[CHB][hapmap];0.81[JPT][hapmap]
rs10500719	0.94[CHB][hapmap];0.81[JPT][hapmap]
rs10500720	0.89[CHB][hapmap];0.81[JPT][hapmap]
rs10500721	0.88[CHB][hapmap]
rs10500722	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs10500723	0.88[CHB][hapmap]
rs10734652	0.88[CEU][hapmap];0.88[EUR][1000 genomes]
rs10770082	0.89[CEU][hapmap];0.91[EUR][1000 genomes]
rs10770083	0.91[EUR][1000 genomes]
rs10770084	0.89[CEU][hapmap];0.91[EUR][1000 genomes]
rs10770087	0.88[EUR][1000 genomes]
rs10770089	0.82[EUR][1000 genomes]
rs10770090	0.89[EUR][1000 genomes]
rs10840346	0.88[CEU][hapmap];0.92[EUR][1000 genomes]
rs10840349	0.91[EUR][1000 genomes]
rs10840353	0.91[EUR][1000 genomes]
rs10840354	0.91[EUR][1000 genomes]
rs10840357	0.89[CEU][hapmap];0.88[EUR][1000 genomes]
rs10840358	0.89[CEU][hapmap];0.88[EUR][1000 genomes]
rs10840360	0.89[EUR][1000 genomes]
rs10840363	0.89[CEU][hapmap];0.88[EUR][1000 genomes]
rs10840364	0.89[CEU][hapmap]
rs10840365	0.86[EUR][1000 genomes]
rs10840369	0.89[CEU][hapmap];0.87[EUR][1000 genomes]
rs11042602	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11042617	0.88[CEU][hapmap];0.89[EUR][1000 genomes]
rs11042620	0.80[EUR][1000 genomes]
rs11042621	0.89[CEU][hapmap];0.88[EUR][1000 genomes]
rs11042622	0.88[CEU][hapmap];0.88[EUR][1000 genomes]
rs11042625	0.89[EUR][1000 genomes]
rs11042638	0.88[EUR][1000 genomes]
rs11042656	0.94[CHB][hapmap];0.81[JPT][hapmap]
rs11042657	0.93[CHB][hapmap]
rs11042664	0.94[CHB][hapmap];0.82[JPT][hapmap]
rs11042666	0.94[CHB][hapmap];0.81[JPT][hapmap]
rs11042686	0.94[CHB][hapmap];0.85[JPT][hapmap]
rs11600852	0.91[EUR][1000 genomes]
rs11821308	0.89[CHB][hapmap]
rs12274104	0.94[CHB][hapmap]
rs12278680	0.94[CHB][hapmap];0.81[JPT][hapmap]
rs12278735	0.94[CHB][hapmap]
rs12281526	0.94[CHB][hapmap];0.82[JPT][hapmap]
rs12286927	0.94[CHB][hapmap];0.81[JPT][hapmap]
rs12287386	0.94[CHB][hapmap];0.81[JPT][hapmap]
rs12288200	0.94[CHB][hapmap];0.81[JPT][hapmap]
rs12288275	0.94[CHB][hapmap];0.81[JPT][hapmap]
rs12288355	0.89[CEU][hapmap];0.90[EUR][1000 genomes]
rs12288486	0.94[CHB][hapmap]
rs12288654	0.94[CHB][hapmap];0.81[JPT][hapmap]
rs12360854	0.89[CEU][hapmap];0.92[EUR][1000 genomes]
rs1442736	0.94[CHB][hapmap];0.82[JPT][hapmap]
rs16907334	1.00[YRI][hapmap]
rs16907410	1.00[YRI][hapmap]
rs16907417	1.00[YRI][hapmap];0.82[ASN][1000 genomes]
rs16907462	0.94[CHB][hapmap]
rs16907471	0.94[CHB][hapmap]
rs16907481	0.94[CHB][hapmap];0.81[JPT][hapmap]
rs16907493	0.94[CHB][hapmap];0.81[JPT][hapmap]
rs16907504	0.94[CHB][hapmap]
rs16907533	0.94[CHB][hapmap];0.81[JPT][hapmap]
rs16907561	0.94[CHB][hapmap];0.81[JPT][hapmap]
rs16907568	0.94[CHB][hapmap];0.81[JPT][hapmap]
rs1822294	0.94[CHB][hapmap]
rs1822295	0.94[CHB][hapmap];0.81[JPT][hapmap]
rs1867137	0.94[CHB][hapmap];0.81[JPT][hapmap]
rs1867138	0.94[CHB][hapmap];0.81[JPT][hapmap]
rs2028576	0.94[CHB][hapmap];0.81[JPT][hapmap]
rs2069214	0.94[CHB][hapmap];0.81[JPT][hapmap]
rs2119991	0.88[CHB][hapmap];0.81[JPT][hapmap]
rs2278630	0.94[CHB][hapmap];0.82[JPT][hapmap]
rs2278632	0.94[CHB][hapmap];0.81[JPT][hapmap]
rs2278633	0.94[CHB][hapmap]
rs2278634	0.89[CHB][hapmap]
rs2403230	0.88[CEU][hapmap];0.91[EUR][1000 genomes]
rs2403264	0.89[CEU][hapmap];0.93[EUR][1000 genomes]
rs2403265	0.91[EUR][1000 genomes]
rs2403267	1.00[YRI][hapmap]
rs2403290	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2896513	0.92[YRI][hapmap]
rs3178898	0.94[CHB][hapmap];0.82[JPT][hapmap]
rs34984386	0.84[ASN][1000 genomes]
rs4284389	0.91[EUR][1000 genomes]
rs4316505	0.91[EUR][1000 genomes]
rs4323860	0.89[CHB][hapmap]
rs4350354	0.91[EUR][1000 genomes]
rs4366476	0.89[EUR][1000 genomes]
rs4466825	0.89[CEU][hapmap];0.89[EUR][1000 genomes]
rs4509749	0.89[CEU][hapmap];0.88[EUR][1000 genomes]
rs4635071	0.89[CEU][hapmap];0.88[EUR][1000 genomes]
rs58623593	0.89[EUR][1000 genomes]
rs58842960	0.83[ASN][1000 genomes]
rs61878580	0.84[ASN][1000 genomes]
rs61878581	0.84[ASN][1000 genomes]
rs61878584	0.83[ASN][1000 genomes]
rs61878585	0.83[ASN][1000 genomes]
rs6483964	0.89[CEU][hapmap];0.89[EUR][1000 genomes]
rs6483965	0.89[EUR][1000 genomes]
rs6483966	0.88[CEU][hapmap];0.89[EUR][1000 genomes]
rs6483969	0.89[CHB][hapmap];0.83[ASN][1000 genomes]
rs6483970	0.88[CEU][hapmap];0.89[EUR][1000 genomes]
rs7104821	0.89[EUR][1000 genomes]
rs7105321	0.83[ASN][1000 genomes]
rs7106328	0.89[EUR][1000 genomes]
rs7106491	0.90[EUR][1000 genomes]
rs7107021	0.93[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7110312	0.88[CEU][hapmap];0.88[EUR][1000 genomes]
rs7110664	0.89[EUR][1000 genomes]
rs7111072	0.81[EUR][1000 genomes]
rs7119000	0.88[CEU][hapmap];0.89[EUR][1000 genomes]
rs7121704	0.88[CEU][hapmap];0.90[EUR][1000 genomes]
rs7123728	0.90[CHB][hapmap]
rs7124925	0.89[CHB][hapmap]
rs7125593	0.86[EUR][1000 genomes]
rs7126376	0.89[CEU][hapmap];0.92[EUR][1000 genomes]
rs7128234	1.00[YRI][hapmap]
rs7128591	0.91[EUR][1000 genomes]
rs7129047	0.94[CHB][hapmap];0.82[JPT][hapmap]
rs7129531	0.82[CHB][hapmap]
rs7131203	0.89[EUR][1000 genomes]
rs721008	0.94[CHB][hapmap]
rs7479039	0.90[CHB][hapmap]
rs7926678	0.84[ASN][1000 genomes]
rs7931957	0.80[ASN][1000 genomes]
rs7932988	0.89[CEU][hapmap];0.88[EUR][1000 genomes]
rs7936409	0.94[CHB][hapmap];0.81[JPT][hapmap];0.93[YRI][hapmap];0.83[ASN][1000 genomes]
rs7938534	0.83[ASN][1000 genomes]
rs7938543	0.90[CHB][hapmap]
rs7938891	0.88[EUR][1000 genomes]
rs7938932	0.84[ASN][1000 genomes]
rs7939064	0.84[ASN][1000 genomes]
rs7939146	0.89[EUR][1000 genomes]
rs7946649	0.94[CHB][hapmap];0.83[ASN][1000 genomes]
rs7948166	0.83[EUR][1000 genomes]
rs7950240	0.89[EUR][1000 genomes]
rs9645625	0.86[CEU][hapmap];0.94[CHB][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];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	nsv933855	chr11:9645441-10130519	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv553476	chr11:10024311-10117435	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv430319	chr11:10027543-10711224	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7122422	RP11-351I24.1	cis	Whole Blood	GTEx

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10065200-10067800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr11:10066000-10067800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:10066600-10069000	Weak transcription	Hela-S3	cervix
4	chr11:10066600-10073600	Weak transcription	NHLF	lung
5	chr11:10066600-10073800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr11:10066600-10078600	Weak transcription	Aorta	Aorta
7	chr11:10066800-10072000	Weak transcription	Osteobl	bone
8	chr11:10066800-10073600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr11:10067000-10067400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr11:10067000-10068400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr11:10067000-10071400	Weak transcription	A549	lung
12	chr11:10067000-10078400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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