Variant report

Variant	rs60756250
Chromosome Location	chr12:48889663-48889664
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:13)

rs_ID	r²[population]
rs11168601	0.82[AFR][1000 genomes]
rs11835640	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11835645	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17123105	0.82[AFR][1000 genomes]
rs17123106	0.82[AFR][1000 genomes]
rs17123108	0.82[AFR][1000 genomes]
rs17123135	0.83[AMR][1000 genomes]
rs2068293	0.82[AFR][1000 genomes]
rs2705133	0.87[ASN][1000 genomes]
rs4265629	0.82[AFR][1000 genomes]
rs57022528	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs57809090	0.83[AMR][1000 genomes]
rs61227501	0.93[AFR][1000 genomes];0.94[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	nsv427911	chr12:48670336-48979396	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv975416	chr12:48882416-48893049	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS	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	chr12:48887000-48891800	Weak transcription	Brain Hippocampus Middle	brain
2	chr12:48887600-48890000	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr12:48888800-48891000	Weak transcription	Spleen	Spleen

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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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