Variant report

Variant	rs60130870
Chromosome Location	chr14:70702985-70702986
allele	A/C
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]
rs34937979	1.00[AMR][1000 genomes]
rs57195006	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57233679	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57642196	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60038023	1.00[AFR][1000 genomes]
rs61733810	1.00[AMR][1000 genomes]
rs73278853	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73278891	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73278895	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73280764	1.00[AMR][1000 genomes]
rs73280774	1.00[AMR][1000 genomes]
rs8012417	1.00[AFR][1000 genomes];1.00[AMR][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	nsv832826	chr14:70559589-70723464	Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv902075	chr14:70612618-70919016	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv983840	chr14:70696676-70714926	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70691000-70703400	Weak transcription	K562	blood
2	chr14:70697400-70719400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:70701800-70721200	Weak transcription	iPS DF 19.11 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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