Variant report

Variant	rs12809210
Chromosome Location	chr12:20834542-20834543
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12809378	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12811837	0.97[EUR][1000 genomes]
rs12819256	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12820620	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12831009	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1515779	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16915410	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16923129	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34000404	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34167698	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34425791	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35018358	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35123559	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs67481714	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71446707	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs71446708	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71446709	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs71446712	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71446713	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71446714	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71446715	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7306841	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs7960372	0.97[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	nsv1048067	chr12:20363755-20874845	Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv541408	chr12:20363755-20874845	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1043890	chr12:20659151-21309993	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv541410	chr12:20659151-21309993	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv1054997	chr12:20682009-21292602	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20814600-20834800	Weak transcription	Colon Smooth Muscle	Colon
2	chr12:20816200-20835600	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr12:20816400-20840000	Weak transcription	Right Ventricle	heart
4	chr12:20816800-20834600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr12:20828200-20838800	Strong transcription	Hela-S3	cervix
6	chr12:20828600-20840200	Weak transcription	Osteobl	bone
7	chr12:20830600-20834600	Strong transcription	Fetal Intestine Large	intestine
8	chr12:20831800-20837600	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr12:20832800-20834600	Strong transcription	Stomach Smooth Muscle	stomach
10	chr12:20833000-20834600	Strong transcription	Fetal Muscle Leg	muscle
11	chr12:20833000-20834600	Strong transcription	Left Ventricle	heart
12	chr12:20833200-20834600	Strong transcription	Fetal Muscle Trunk	muscle
13	chr12:20833200-20840000	Weak transcription	Fetal Intestine Small	intestine
14	chr12:20833800-20834600	Enhancers	Liver	Liver
15	chr12:20833800-20834600	Enhancers	Brain Hippocampus Middle	brain
16	chr12:20833800-20834600	Enhancers	HepG2	liver
17	chr12:20833800-20836200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr12:20833800-20839400	Weak transcription	Pancreas	Pancrea
19	chr12:20834000-20834600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr12:20834000-20835200	Enhancers	A549	lung
21	chr12:20834000-20836000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr12:20834000-20836200	Weak transcription	HUVEC	blood vessel
23	chr12:20834200-20834600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:20834200-20835800	Weak transcription	Aorta	Aorta
25	chr12:20834200-20835800	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr12:20834200-20842200	Weak transcription	Ovary	ovary
27	chr12:20834200-20846600	Weak transcription	Fetal Stomach	stomach
28	chr12:20834400-20836200	Weak transcription	Duodenum Mucosa	Duodenum
29	chr12:20834400-20836400	Weak transcription	Fetal Kidney	kidney

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