Variant report

Variant	rs7971064
Chromosome Location	chr12:119776261-119776262
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11064755	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11064756	1.00[CEU][hapmap]
rs11064767	0.86[CEU][hapmap]
rs11064776	0.86[CEU][hapmap]
rs11064778	0.86[CEU][hapmap]
rs11064779	0.86[CEU][hapmap]
rs11064782	0.86[CEU][hapmap]
rs11064785	0.81[CEU][hapmap]
rs11064789	0.85[CEU][hapmap]
rs12368789	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12370095	0.85[CEU][hapmap]
rs7306221	0.86[CEU][hapmap]
rs7308840	0.85[CEU][hapmap]
rs7312409	0.86[CEU][hapmap]
rs7959781	0.86[CEU][hapmap]
rs7972234	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7973310	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7977458	1.00[CEU][hapmap]
rs7980254	0.86[CEU][hapmap]

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	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
3	nsv899552	chr12:119733874-119814623	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119774600-119777400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr12:119775600-119776600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:119776000-119776800	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:119776200-119777000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
5	chr12:119776200-119777200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
6	chr12:119776200-119777200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:119776200-119777800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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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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