Variant report

Variant	rs1716433
Chromosome Location	chr12:119883852-119883853
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10774498	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1619163	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1727387	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1727390	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2519539	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2519540	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2519542	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2727742	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6490255	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs708874	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs708879	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs784841	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs784844	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs784853	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs810784	0.91[AMR][1000 genomes];0.91[EUR][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	nsv1047036	chr12:119477583-119992640	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv916688	chr12:119801814-120044407	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv832529	chr12:119863378-120071646	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119882800-119884000	Weak transcription	A549	lung
2	chr12:119882800-119884800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr12:119882800-119884800	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr12:119882800-119886600	Weak transcription	iPS-15b 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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