Variant report

Variant	rs56293460
Chromosome Location	chr12:20615526-20615527
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11045254	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11609734	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12313679	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12313682	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55716363	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55848999	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56186852	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56256297	0.83[AMR][1000 genomes]
rs56378963	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59843471	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61453719	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs74066420	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs74066448	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs74066450	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs74066451	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7485410	0.95[AMR][1000 genomes];0.98[EUR][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:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20588200-20618400	Weak transcription	Ovary	ovary
2	chr12:20604400-20621600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr12:20606000-20616600	Weak transcription	A549	lung
4	chr12:20607800-20645000	Weak transcription	Right Ventricle	heart
5	chr12:20609000-20618800	Weak transcription	Osteobl	bone
6	chr12:20609000-20619000	Weak transcription	NHDF-Ad	bronchial
7	chr12:20611800-20621200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr12:20612000-20617600	Weak transcription	Hela-S3	cervix
9	chr12:20614000-20617600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr12:20614200-20618800	Weak transcription	Fetal Intestine Large	intestine
11	chr12:20614200-20621800	Weak transcription	Small Intestine	intestine
12	chr12:20614800-20621000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:20615000-20618800	Weak transcription	Fetal Intestine Small	intestine
14	chr12:20615200-20616000	Enhancers	Left Ventricle	heart

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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