Variant report

Variant	rs12091020
Chromosome Location	chr1:47194456-47194457
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11211336	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11211355	1.00[AMR][1000 genomes]
rs11488213	1.00[AMR][1000 genomes]
rs12068750	1.00[AMR][1000 genomes]
rs12068807	1.00[AMR][1000 genomes]
rs12071983	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12073003	1.00[AMR][1000 genomes]
rs12086110	0.83[AFR][1000 genomes]
rs12094471	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60434257	1.00[AMR][1000 genomes]
rs74072691	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001455	chr1:46828004-47326539	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv534950	chr1:46828004-47326539	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1013048	chr1:47132831-47377364	Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv534955	chr1:47132831-47377364	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 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	chr1:47194000-47194600	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr1:47194000-47194600	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr1:47194000-47194800	Enhancers	Placenta	Placenta
4	chr1:47194200-47194600	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr1:47194200-47194600	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr1:47194200-47194600	Active TSS	HepG2	liver
7	chr1:47194400-47194600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:47194400-47194600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr1:47194400-47194600	Enhancers	Fetal Muscle Trunk	muscle

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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