Variant report

Variant	rs2727710
Chromosome Location	chr12:119662572-119662573
allele	C/T
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]
rs1426624	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1465516	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2467020	0.89[CHD][hapmap]
rs2555287	0.82[CEU][hapmap];0.91[MEX][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2555293	0.89[CHD][hapmap]
rs2727708	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2727709	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2727712	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2727715	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6490245	0.95[EUR][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	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	nsv832528	chr12:119638211-119793401	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119658400-119663200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr12:119658800-119663000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr12:119662000-119663200	Weak transcription	Fetal Heart	heart
4	chr12:119662400-119662600	Enhancers	Lung	lung
5	chr12:119662400-119662600	Enhancers	Psoas Muscle	Psoas
6	chr12:119662400-119663400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:119662400-119663600	Enhancers	H1 Cell Line	embryonic stem cell
8	chr12:119662400-119663600	Enhancers	H9 Cell Line	embryonic stem cell
9	chr12:119662400-119663800	Enhancers	Left Ventricle	heart

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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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