Variant report

Variant	rs7113939
Chromosome Location	chr11:49230626-49230627
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 93 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10501325	1.00[AFR][1000 genomes]
rs17472150	1.00[AFR][1000 genomes]
rs17555964	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs17556033	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs17743539	1.00[EUR][1000 genomes]
rs17815807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17821682	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1851985	1.00[AFR][1000 genomes]
rs2002868	0.87[AMR][1000 genomes]
rs2031086	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2866146	0.87[AMR][1000 genomes]
rs34534366	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3868868	0.87[AMR][1000 genomes]
rs3872565	0.87[AMR][1000 genomes]
rs4080749	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs4103565	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs55659758	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs55677078	1.00[EUR][1000 genomes]
rs55869423	0.87[AMR][1000 genomes]
rs55956951	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55987311	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56039736	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61885250	0.87[AMR][1000 genomes]
rs61885251	0.87[AMR][1000 genomes]
rs61885289	1.00[AFR][1000 genomes]
rs61885290	1.00[AFR][1000 genomes]
rs61885294	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs61885295	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs61885296	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs61885307	0.81[EUR][1000 genomes]
rs61885324	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs61885326	1.00[AFR][1000 genomes];0.81[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]
rs61886467	0.87[AMR][1000 genomes]
rs61886480	0.87[AMR][1000 genomes]
rs61886481	1.00[AMR][1000 genomes]
rs61886482	1.00[AMR][1000 genomes]
rs61886483	0.87[AMR][1000 genomes]
rs61886486	0.87[AMR][1000 genomes]
rs61886487	1.00[AMR][1000 genomes]
rs61886489	1.00[AMR][1000 genomes]
rs61886493	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61886494	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61886495	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61886498	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61886507	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61886509	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61886511	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61886512	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61886517	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61886529	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61886530	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61886531	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61886532	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61886534	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61886537	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61886538	1.00[EUR][1000 genomes]
rs61886539	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6485967	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7106778	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7116357	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs7116574	1.00[AFR][1000 genomes]
rs7116845	0.87[AMR][1000 genomes]
rs7119205	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7120140	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7122398	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7123690	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7124497	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7126361	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7126472	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7126892	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7129346	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs7129509	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs7482206	1.00[AFR][1000 genomes]
rs7925435	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7925476	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs7925595	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs7930322	1.00[EUR][1000 genomes]
rs7939978	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs7944183	0.87[AMR][1000 genomes]
rs7944746	0.87[AMR][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	nsv972015	chr11:49187522-49240719	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	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
8	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
9	esv1834726	chr11:49215288-49242990	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7113939	FOLH1	cis	lung	GTEx

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:49230400-49234200	Weak transcription	Brain Cingulate Gyrus	brain
2	chr11:49230400-49234600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr11:49230400-49235800	Weak transcription	Brain Anterior Caudate	brain
4	chr11:49230400-49236000	Weak transcription	Brain Substantia Nigra	brain
5	chr11:49230600-49230800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr11:49230600-49230800	Enhancers	Brain Hippocampus Middle	brain
7	chr11:49230600-49232600	Weak transcription	Brain Inferior Temporal Lobe	brain

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