Variant report

Variant	rs4762973
Chromosome Location	chr12:20710145-20710146
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11613220	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12832108	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4762764	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4762968	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6487099	0.91[EUR][1000 genomes]
rs7134968	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7303852	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7484304	0.88[EUR][1000 genomes]
rs7487227	0.91[EUR][1000 genomes]
rs7489188	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7953905	0.91[EUR][1000 genomes]
rs7977362	0.89[AMR][1000 genomes];0.95[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	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	nsv1046870	chr12:20509914-20711535	Active TSS Genic enhancers Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
4	nsv541409	chr12:20509914-20711535	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20704600-20710200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr12:20704600-20710200	Weak transcription	Hela-S3	cervix
3	chr12:20704600-20712000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr12:20704600-20712400	Weak transcription	Fetal Lung	lung
5	chr12:20704600-20713200	Weak transcription	Stomach Smooth Muscle	stomach
6	chr12:20704600-20713600	Weak transcription	Aorta	Aorta
7	chr12:20704600-20713600	Weak transcription	Right Atrium	heart
8	chr12:20704600-20713800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr12:20704600-20714400	Weak transcription	Colon Smooth Muscle	Colon
10	chr12:20704600-20716000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr12:20704600-20716200	Weak transcription	NHDF-Ad	bronchial
12	chr12:20706800-20746400	Weak transcription	Fetal Intestine Small	intestine
13	chr12:20708000-20712000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr12:20708200-20715200	Weak transcription	Left Ventricle	heart
15	chr12:20708600-20710800	Enhancers	A549	lung
16	chr12:20709600-20711000	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr12:20709800-20710200	Enhancers	Brain Anterior Caudate	brain
18	chr12:20709800-20710400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr12:20709800-20710400	Enhancers	Brain Hippocampus Middle	brain
20	chr12:20709800-20710400	Strong transcription	Fetal Intestine Large	intestine
21	chr12:20709800-20711000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr12:20710000-20710600	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr12:20710000-20711000	Enhancers	Brain Substantia Nigra	brain

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