Variant report

Variant	rs72991765
Chromosome Location	chr2:141754360-141754361
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1997077	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57278894	0.96[EUR][1000 genomes]
rs58237958	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60047991	0.98[EUR][1000 genomes]
rs60260944	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61374054	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72975033	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72975034	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72975037	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72975041	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72975064	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72981063	0.87[EUR][1000 genomes]
rs72991755	0.98[EUR][1000 genomes]
rs72991770	0.98[EUR][1000 genomes]
rs72991775	1.00[AMR][1000 genomes];1.00[EUR][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	nsv583198	chr2:141510791-142150620	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1003008	chr2:141518795-141763505	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv875208	chr2:141657878-141795620	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1014208	chr2:141707558-141790148	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv817518	chr2:141714174-142287302	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:141748600-141755600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr2:141749200-141755400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:141751800-141755200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:141753600-141754400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:141753600-141754400	Enhancers	Brain Germinal Matrix	brain
6	chr2:141753600-141754400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr2:141753600-141754600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:141753800-141755000	Enhancers	Dnd41	blood

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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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