Variant report

Variant	rs61939511
Chromosome Location	chr12:119732498-119732499
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs56051409	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61939506	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61939507	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61939509	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61939512	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61939523	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047036	chr12:119477583-119992640	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv832528	chr12:119638211-119793401	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119726800-119732800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr12:119729800-119746600	Weak transcription	Right Atrium	heart
3	chr12:119731000-119732600	Weak transcription	Fetal Stomach	stomach
4	chr12:119731000-119732800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:119731000-119732800	Enhancers	Colon Smooth Muscle	Colon
6	chr12:119732000-119732800	Enhancers	Fetal Lung	lung
7	chr12:119732400-119732800	Enhancers	Rectal Smooth Muscle	rectum

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

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