Variant report

Variant	rs73012216
Chromosome Location	chr1:158127344-158127345
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs6683431	0.88[AFR][1000 genomes]
rs73012227	1.00[AFR][1000 genomes]
rs73012230	1.00[AFR][1000 genomes]
rs73014155	0.88[AFR][1000 genomes]
rs73026676	0.81[AFR][1000 genomes]
rs73028520	0.89[AFR][1000 genomes]
rs7524536	0.94[AFR][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	nsv999542	chr1:158015715-158368132	Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv872479	chr1:158118787-158484285	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 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	chr1:158125000-158131800	Weak transcription	Primary B cells from cord blood	blood
2	chr1:158125200-158130000	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr1:158125200-158130200	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr1:158125200-158130200	Weak transcription	Primary B cells from peripheral blood	blood
5	chr1:158126000-158130200	Weak transcription	HMEC	breast
6	chr1:158126000-158130200	Weak transcription	NHEK	skin
7	chr1:158126400-158127800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr1:158126600-158130200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	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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