Variant report

Variant	rs60880464
Chromosome Location	chr12:22134309-22134310
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]
rs11608784	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11609252	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11611076	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11612085	1.00[ASN][1000 genomes]
rs17700893	1.00[ASN][1000 genomes]
rs1914359	1.00[ASN][1000 genomes]
rs55717112	1.00[ASN][1000 genomes]
rs56360431	1.00[ASN][1000 genomes]
rs7295606	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7303378	1.00[ASN][1000 genomes]
rs7312748	1.00[ASN][1000 genomes]
rs9645737	1.00[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	nsv557741	chr12:21578559-22169854	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1051073	chr12:21910875-22271209	Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv639	chr12:22110979-22153478	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:22132800-22139600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:22133800-22134800	Enhancers	NHDF-Ad	bronchial

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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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