Variant report

Variant	rs12465119
Chromosome Location	chr2:67921015-67921016
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12162351	0.86[ASN][1000 genomes]
rs17034087	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17034147	0.82[AMR][1000 genomes]
rs17040171	0.86[ASN][1000 genomes]
rs2861712	0.86[ASN][1000 genomes]
rs58113451	0.82[AMR][1000 genomes]
rs60205859	0.82[AMR][1000 genomes]
rs6747212	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72621584	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72621585	0.84[ASN][1000 genomes]
rs72621586	0.86[ASN][1000 genomes]
rs72621588	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534389	chr2:67388428-68225338	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	nsv1007345	chr2:67870225-67980094	Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Weak transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv834250	chr2:67897722-68051532	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:67917400-67921800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr2:67920800-67922200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr2:67921000-67922200	Enhancers	iPS-20b 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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