Variant report

Variant	rs72966196
Chromosome Location	chr1:93277152-93277153
allele	C/T
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:18)

rs_ID	r²[population]
rs2391176	1.00[AMR][1000 genomes]
rs59590952	1.00[AMR][1000 genomes]
rs60815312	1.00[AMR][1000 genomes]
rs72956029	1.00[AMR][1000 genomes]
rs72956041	1.00[AMR][1000 genomes]
rs72956069	1.00[AMR][1000 genomes]
rs72966172	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72966719	1.00[AMR][1000 genomes]
rs72966728	1.00[AMR][1000 genomes]
rs72966760	1.00[AMR][1000 genomes]
rs72966784	1.00[AMR][1000 genomes]
rs72966791	1.00[AMR][1000 genomes]
rs72968037	1.00[AMR][1000 genomes]
rs72968083	1.00[AMR][1000 genomes]
rs72968088	1.00[AMR][1000 genomes]
rs72968836	1.00[AMR][1000 genomes]
rs72970627	1.00[AMR][1000 genomes]
rs72970638	1.00[AMR][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	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv530047	chr1:93273425-93308213	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93274600-93277200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr1:93274800-93283600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:93275200-93278000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:93276800-93277200	Enhancers	Placenta	Placenta
5	chr1:93276800-93277200	Enhancers	K562	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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