Variant report

Variant	rs7129346
Chromosome Location	chr11:49285761-49285762
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10501325	1.00[AFR][1000 genomes]
rs17472150	1.00[AFR][1000 genomes]
rs17555964	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs17556033	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs17743539	0.81[EUR][1000 genomes]
rs17815807	1.00[AFR][1000 genomes]
rs17821682	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs1851985	1.00[AFR][1000 genomes]
rs2031086	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs34534366	0.81[EUR][1000 genomes]
rs4080749	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs4103565	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs55659758	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs55677078	0.81[EUR][1000 genomes]
rs55987311	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs56039736	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs56259899	1.00[AFR][1000 genomes]
rs61885289	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs61885290	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs61885294	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs61885295	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs61885296	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs61885307	0.87[EUR][1000 genomes]
rs61885324	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs61885326	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs61885340	1.00[AFR][1000 genomes]
rs61885341	1.00[AFR][1000 genomes]
rs61885342	1.00[AFR][1000 genomes]
rs61885344	1.00[AFR][1000 genomes]
rs61885355	1.00[AFR][1000 genomes]
rs61885356	1.00[AFR][1000 genomes]
rs61886509	1.00[AFR][1000 genomes]
rs61886511	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs61886512	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs61886517	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs61886529	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs61886530	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs61886531	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs61886532	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs61886534	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs61886537	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs61886538	0.81[EUR][1000 genomes]
rs61886539	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs6485967	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs7113939	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs7116357	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7116574	1.00[AFR][1000 genomes]
rs7119205	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs7120140	1.00[AFR][1000 genomes]
rs7122398	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs7123690	1.00[AFR][1000 genomes]
rs7124497	1.00[AFR][1000 genomes]
rs7126361	1.00[AFR][1000 genomes]
rs7126472	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs7126892	1.00[AFR][1000 genomes]
rs7129509	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7482206	1.00[AFR][1000 genomes]
rs7925435	1.00[AFR][1000 genomes]
rs7925476	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs7925595	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs7930322	0.81[EUR][1000 genomes]
rs7939978	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469956	chr11:48922645-49862647	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv554347	chr11:49111467-49862647	Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1044070	chr11:49147743-49448774	Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv525454	chr11:49156039-49570587	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv518571	chr11:49162948-49627833	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv2758269	chr11:49212237-49468966	Bivalent/Poised TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv2759825	chr11:49212237-49468966	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv972016	chr11:49246163-49330536	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv2757442	chr11:49281916-49398973	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7129346	FOLH1	cis	lung	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:49280400-49285800	Weak transcription	Fetal Intestine Large	intestine

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