Variant report

Variant	rs12465605
Chromosome Location	chr2:171777617-171777618
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10930447	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11899713	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11904750	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12468326	0.98[ASN][1000 genomes]
rs16859026	0.94[ASN][1000 genomes]
rs16859028	0.95[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17505447	0.84[ASN][1000 genomes]
rs2081766	0.86[AFR][1000 genomes]
rs2081767	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2081768	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2356422	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs3886463	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs57556696	0.98[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431801	chr2:171721493-171966493	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 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	chr2:171774600-171779800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:171774800-171779400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:171775000-171784800	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr2:171775400-171779600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:171776000-171779400	Weak transcription	HUES6 Cell Line	embryonic stem cell

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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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