Variant report

Variant	rs73217290
Chromosome Location	chr12:119884529-119884530
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11064793	0.85[ASN][1000 genomes]
rs12297453	0.96[ASN][1000 genomes]
rs12303615	0.95[ASN][1000 genomes]
rs12305024	0.87[ASN][1000 genomes]
rs12322638	0.94[ASN][1000 genomes]
rs1880985	0.96[ASN][1000 genomes]
rs56105768	0.96[ASN][1000 genomes]
rs56211979	0.84[ASN][1000 genomes]
rs67884573	0.95[ASN][1000 genomes]
rs7968484	0.96[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	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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119882800-119884800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr12:119882800-119884800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr12:119882800-119886600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr12:119884000-119885000	Enhancers	Muscle Satellite Cultured Cells	--
5	chr12:119884000-119885000	Enhancers	HSMMtube	muscle
6	chr12:119884400-119884600	Enhancers	A549	lung

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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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