Variant report

Variant	rs55716363
Chromosome Location	chr12:20628094-20628095
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10841526	1.00[ASN][1000 genomes]
rs11045254	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11609734	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12313679	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12313682	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55848999	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56186852	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56293460	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56378963	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs58561346	0.84[AFR][1000 genomes]
rs59843471	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61453719	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7302500	0.80[AFR][1000 genomes]
rs74064915	0.80[AFR][1000 genomes]
rs74066420	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74066448	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74066450	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74066451	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74066462	0.80[AFR][1000 genomes]
rs7485410	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv1042315	chr12:20531641-20629866	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv557701	chr12:20614024-20643574	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20607800-20645000	Weak transcription	Right Ventricle	heart
2	chr12:20619200-20628600	Weak transcription	Stomach Smooth Muscle	stomach
3	chr12:20619200-20654200	Weak transcription	Fetal Stomach	stomach
4	chr12:20619600-20628400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr12:20623200-20635200	Weak transcription	Fetal Intestine Large	intestine
6	chr12:20623400-20628400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr12:20625400-20628400	Weak transcription	Ovary	ovary
8	chr12:20626400-20628600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr12:20626400-20630000	Weak transcription	Colon Smooth Muscle	Colon
10	chr12:20627000-20628600	Weak transcription	Right Atrium	heart
11	chr12:20627200-20629000	Enhancers	A549	lung
12	chr12:20627400-20628600	Enhancers	NHDF-Ad	bronchial
13	chr12:20627400-20628800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
14	chr12:20627400-20628800	Enhancers	NH-A	brain
15	chr12:20627400-20629000	Flanking Active TSS	Osteobl	bone
16	chr12:20627800-20628200	Weak transcription	Fetal Intestine Small	intestine
17	chr12:20627800-20628200	Weak transcription	Left Ventricle	heart
18	chr12:20627800-20628400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr12:20627800-20628600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:20627800-20628600	Active TSS	Aorta	Aorta
21	chr12:20627800-20630000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr12:20627800-20635600	Weak transcription	Hela-S3	cervix

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