Variant report

Variant	rs2116135
Chromosome Location	chr12:41585742-41585743
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10748267	0.85[EUR][1000 genomes]
rs10785150	0.80[EUR][1000 genomes]
rs1367602	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1431104	0.85[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs1461094	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1864611	0.85[EUR][1000 genomes]
rs1864613	0.85[EUR][1000 genomes]
rs2116133	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2116134	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2163415	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2169299	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs281829	0.83[EUR][1000 genomes]
rs281831	0.81[EUR][1000 genomes]
rs281832	0.80[EUR][1000 genomes]
rs281837	0.83[EUR][1000 genomes]
rs281839	0.81[EUR][1000 genomes]
rs281840	0.83[EUR][1000 genomes]
rs281841	0.87[EUR][1000 genomes]
rs281843	0.83[EUR][1000 genomes]
rs3847980	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3847981	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3858726	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6582240	0.85[EUR][1000 genomes]
rs7303285	0.84[EUR][1000 genomes]
rs7487688	0.85[AFR][1000 genomes]
rs776562	0.80[EUR][1000 genomes]
rs776567	0.84[EUR][1000 genomes]
rs7954881	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv497867	chr12:41286305-41728650	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv427910	chr12:41374913-41650593	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1051524	chr12:41409977-41643387	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv899034	chr12:41515090-41698342	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv899035	chr12:41548545-41710912	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41585200-41587200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr12:41585200-41588000	Enhancers	Colon Smooth Muscle	Colon
3	chr12:41585400-41586800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr12:41585400-41599000	Weak transcription	Duodenum Smooth Muscle	Duodenum

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