Variant report

Variant	rs2727708
Chromosome Location	chr12:119661039-119661040
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1426624	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1465516	0.99[ASN][1000 genomes]
rs2727709	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2727710	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2727713	0.83[AMR][1000 genomes]
rs2727714	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2727715	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6490245	0.92[AMR][1000 genomes];0.99[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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119647000-119662400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:119658200-119662400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:119658400-119663200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr12:119658600-119662400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr12:119658800-119663000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr12:119659800-119662000	Enhancers	Fetal Heart	heart
7	chr12:119660600-119661600	Enhancers	Left Ventricle	heart
8	chr12:119660800-119662400	Weak transcription	Lung	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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