Variant report

Variant	rs67421457
Chromosome Location	chr2:73343499-73343500
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1046183	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs13404068	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2421099	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs56931614	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs56992198	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs57875548	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58469852	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58617186	0.85[ASN][1000 genomes]
rs58649746	0.86[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs58659495	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs59802755	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs60341789	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs61061024	0.85[ASN][1000 genomes]
rs61652727	0.80[AMR][1000 genomes]
rs62147756	0.82[AMR][1000 genomes]
rs6716846	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][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	nsv1002295	chr2:73216155-73350391	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv1006801	chr2:73305056-73431711	Weak transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73340800-73344200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:73341200-73344200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr2:73341400-73344400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr2:73341600-73344200	Weak transcription	Hela-S3	cervix
5	chr2:73341600-73344400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr2:73342200-73344000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:73342200-73344200	Weak transcription	NHDF-Ad	bronchial
8	chr2:73342200-73344200	Weak transcription	NHLF	lung
9	chr2:73342200-73344400	Weak transcription	Osteobl	bone
10	chr2:73342400-73344200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:73342400-73344200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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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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