Variant report

Variant	rs1729796
Chromosome Location	chr12:58739576-58739577
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1148533	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1174389	0.87[EUR][1000 genomes]
rs1174594	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1174600	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1185862	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1729803	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2642539	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2642541	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899124	chr12:58391839-58883507	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv730	chr12:58698792-58759096	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv84	chr12:58720676-58746311	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv510602	chr12:58722449-58770942	Enhancers Weak transcription Flanking Active TSS Active TSS	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	chr12:58731600-58746600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:58736400-58742400	Weak transcription	NHLF	lung
3	chr12:58736600-58741200	Weak transcription	Fetal Muscle Leg	muscle
4	chr12:58736800-58740200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr12:58736800-58741000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr12:58736800-58741400	Weak transcription	Fetal Stomach	stomach
7	chr12:58736800-58751800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr12:58737000-58740200	Weak transcription	NHDF-Ad	bronchial
9	chr12:58737600-58743200	Weak transcription	HUVEC	blood vessel
10	chr12:58737800-58740200	Weak transcription	HSMM	muscle
11	chr12:58738200-58739800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr12:58738200-58740200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr12:58738400-58739800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr12:58738400-58740200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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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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