Variant report

Variant	rs34425791
Chromosome Location	chr12:20830497-20830498
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]
rs12809210	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12809378	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12811837	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12819256	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12820620	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12831009	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1515779	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16915410	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16923129	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34000404	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34167698	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35018358	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35123559	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs67481714	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs71446707	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs71446708	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71446709	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs71446712	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs71446713	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71446714	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71446715	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7306841	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7960372	0.86[AMR][1000 genomes];1.00[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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20813600-20833000	Weak transcription	Fetal Kidney	kidney
2	chr12:20814600-20834800	Weak transcription	Colon Smooth Muscle	Colon
3	chr12:20816200-20835600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr12:20816400-20833000	Weak transcription	Duodenum Mucosa	Duodenum
5	chr12:20816400-20833200	Weak transcription	Ovary	ovary
6	chr12:20816400-20840000	Weak transcription	Right Ventricle	heart
7	chr12:20816600-20831200	Weak transcription	Aorta	Aorta
8	chr12:20816600-20833800	Weak transcription	Fetal Stomach	stomach
9	chr12:20816800-20834600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr12:20817000-20834400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:20817200-20833000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr12:20818600-20832400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr12:20819400-20830800	Weak transcription	Left Ventricle	heart
14	chr12:20819600-20831000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr12:20819800-20831000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr12:20820800-20830800	Weak transcription	Fetal Muscle Trunk	muscle
17	chr12:20827400-20833000	Weak transcription	HUVEC	blood vessel
18	chr12:20828200-20838800	Strong transcription	Hela-S3	cervix
19	chr12:20828600-20840200	Weak transcription	Osteobl	bone
20	chr12:20829600-20830600	ZNF genes & repeats	Fetal Intestine Large	intestine
21	chr12:20829800-20831000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr12:20830200-20834000	Weak transcription	A549	lung

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