Variant report

Variant	rs357246
Chromosome Location	chr1:71941150-71941151
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10889919	1.00[EUR][1000 genomes]
rs10889920	1.00[EUR][1000 genomes]
rs11209789	1.00[EUR][1000 genomes]
rs11209790	1.00[EUR][1000 genomes]
rs11209791	1.00[EUR][1000 genomes]
rs11800427	1.00[EUR][1000 genomes]
rs11802260	1.00[EUR][1000 genomes]
rs11806447	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11807423	1.00[EUR][1000 genomes]
rs11811674	1.00[EUR][1000 genomes]
rs12240058	1.00[EUR][1000 genomes]
rs1228840	1.00[EUR][1000 genomes]
rs1350647	1.00[EUR][1000 genomes]
rs17091197	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17091200	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2794309	1.00[EUR][1000 genomes]
rs28370477	1.00[EUR][1000 genomes]
rs28524640	1.00[EUR][1000 genomes]
rs583874	1.00[EUR][1000 genomes]
rs598323	1.00[EUR][1000 genomes]
rs61350755	1.00[EUR][1000 genomes]
rs692957	1.00[EUR][1000 genomes]
rs693711	1.00[EUR][1000 genomes]
rs72936140	1.00[EUR][1000 genomes]
rs72936152	1.00[EUR][1000 genomes]
rs72936156	1.00[EUR][1000 genomes]
rs72936157	1.00[EUR][1000 genomes]
rs72936165	1.00[EUR][1000 genomes]
rs72936169	1.00[EUR][1000 genomes]
rs72936171	1.00[EUR][1000 genomes]
rs72936176	1.00[EUR][1000 genomes]
rs72938046	1.00[EUR][1000 genomes]
rs72938066	1.00[EUR][1000 genomes]
rs72938067	1.00[EUR][1000 genomes]
rs72938068	1.00[EUR][1000 genomes]
rs72938069	1.00[EUR][1000 genomes]
rs72938087	1.00[EUR][1000 genomes]
rs72938088	1.00[EUR][1000 genomes]
rs72938089	1.00[EUR][1000 genomes]
rs72938091	1.00[EUR][1000 genomes]
rs7554202	1.00[EUR][1000 genomes]
rs915218	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949599	chr1:71655652-72327802	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1005726	chr1:71701840-71953242	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv1848377	chr1:71718838-71964514	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv531880	chr1:71724941-71964501	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv916508	chr1:71777392-72046388	Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv546474	chr1:71793221-72040354	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv830170	chr1:71856447-72008758	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:71937800-71942400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:71940000-71943000	Weak transcription	Rectal Mucosa Donor 31	rectum

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