Variant report

Variant	rs58500193
Chromosome Location	chr12:20734281-20734282
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12319897	1.00[AMR][1000 genomes]
rs12322107	1.00[AMR][1000 genomes]
rs4128682	1.00[AMR][1000 genomes]
rs73238434	1.00[AMR][1000 genomes]
rs73238439	1.00[AMR][1000 genomes]
rs73238452	1.00[AMR][1000 genomes]
rs73240404	1.00[AMR][1000 genomes]
rs73240410	1.00[AMR][1000 genomes]
rs73240412	1.00[AMR][1000 genomes]
rs73240420	1.00[AMR][1000 genomes]
rs7954835	1.00[AMR][1000 genomes]
rs7974376	1.00[AMR][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:14 , 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	chr12:20731400-20736800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr12:20731400-20743200	Weak transcription	Pancreas	Pancrea
7	chr12:20731800-20738000	Weak transcription	Aorta	Aorta
8	chr12:20732600-20734400	Enhancers	Brain Germinal Matrix	brain
9	chr12:20732800-20736800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr12:20732800-20741200	Weak transcription	Right Ventricle	heart
11	chr12:20733000-20738000	Weak transcription	Hela-S3	cervix
12	chr12:20733200-20735200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr12:20733800-20737600	Weak transcription	Colon Smooth Muscle	Colon
14	chr12:20734200-20734400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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