Variant report

Variant	rs60471022
Chromosome Location	chr12:105982169-105982170
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11829834	1.00[AMR][1000 genomes]
rs12099891	1.00[AMR][1000 genomes]
rs56852671	1.00[AMR][1000 genomes]
rs7302359	1.00[AMR][1000 genomes]
rs73383298	1.00[AMR][1000 genomes]
rs73383302	1.00[AMR][1000 genomes]
rs73385007	1.00[AMR][1000 genomes]
rs73385015	1.00[AMR][1000 genomes]
rs73385077	1.00[AMR][1000 genomes]
rs7956928	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	nsv832507	chr12:105821685-106005186	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1039068	chr12:105935786-106211250	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105981400-105982200	Enhancers	Lung	lung
2	chr12:105981800-105982200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:105981800-105982200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:105981800-105982200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr12:105982000-105982200	Enhancers	Esophagus	oesophagus
6	chr12:105982000-105983400	Weak transcription	HUVEC	blood vessel

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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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