Variant report

Variant	rs55729847
Chromosome Location	chr12:20743143-20743144
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11045324	0.88[ASN][1000 genomes]
rs12320894	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4609649	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73076973	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73076989	0.93[ASN][1000 genomes]
rs7953797	0.93[ASN][1000 genomes]
rs7961708	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7975835	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20706800-20746400	Weak transcription	Fetal Intestine Small	intestine
2	chr12:20710400-20754800	Weak transcription	Fetal Intestine Large	intestine
3	chr12:20726000-20745400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:20730400-20743200	Weak transcription	Left Ventricle	heart
5	chr12:20731400-20743200	Weak transcription	Pancreas	Pancrea
6	chr12:20739200-20743400	Weak transcription	Aorta	Aorta
7	chr12:20741200-20745000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:20741400-20744200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr12:20741400-20744600	Enhancers	Colon Smooth Muscle	Colon
10	chr12:20741400-20745400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr12:20741400-20746200	Weak transcription	Fetal Stomach	stomach
12	chr12:20741400-20752000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr12:20741600-20743200	Weak transcription	Fetal Brain Male	brain
14	chr12:20741600-20743400	Weak transcription	Brain Germinal Matrix	brain
15	chr12:20741800-20743200	Weak transcription	Brain Angular Gyrus	brain
16	chr12:20741800-20743200	Weak transcription	Brain Anterior Caudate	brain
17	chr12:20741800-20743200	Weak transcription	Fetal Heart	heart
18	chr12:20741800-20743600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr12:20741800-20744400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr12:20741800-20745000	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr12:20741800-20745000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr12:20742000-20743800	Weak transcription	Brain Cingulate Gyrus	brain
23	chr12:20742000-20745400	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr12:20742400-20743600	Weak transcription	Brain Substantia Nigra	brain
25	chr12:20742600-20753200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr12:20742800-20745600	Strong transcription	Hela-S3	cervix
27	chr12:20743000-20744000	Enhancers	Brain Hippocampus Middle	brain

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