Variant report

Variant	rs73213438
Chromosome Location	chr12:119599129-119599130
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1896140	0.87[EUR][1000 genomes]
rs55639526	0.85[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs55818759	0.91[EUR][1000 genomes]
rs73213430	0.87[EUR][1000 genomes]
rs73213433	0.91[EUR][1000 genomes]
rs73213442	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7485049	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7486691	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv902	chr12:119576112-119621140	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv899550	chr12:119581131-119654315	Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr12:119592800-119603000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:119595200-119602800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:119595600-119609000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr12:119595800-119599400	Weak transcription	Brain Angular Gyrus	brain
5	chr12:119595800-119601000	Weak transcription	Brain Germinal Matrix	brain
6	chr12:119596200-119599600	Enhancers	Fetal Muscle Leg	muscle
7	chr12:119597400-119601200	Weak transcription	Fetal Brain Female	brain
8	chr12:119597400-119613800	Weak transcription	Aorta	Aorta
9	chr12:119597600-119599600	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr12:119598000-119599400	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr12:119598400-119601600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:119598400-119613800	Weak transcription	Right Atrium	heart
13	chr12:119598600-119601800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:119599000-119599200	Enhancers	Psoas Muscle	Psoas

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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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