Variant report

Variant	rs2004130
Chromosome Location	chr1:76479107-76479108
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11579206	0.83[AMR][1000 genomes]
rs12405897	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12408790	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12411016	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1251482	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1251483	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1251516	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1251520	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1251521	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1251522	0.84[AMR][1000 genomes]
rs1658741	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17657999	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1770896	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1892480	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4949620	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4949689	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72988522	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998499	chr1:76361784-76598712	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr1:76477400-76479800	Enhancers	Placenta Amnion	Placenta Amnion
2	chr1:76477600-76479800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:76478000-76479200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:76478000-76480000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:76478200-76479400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:76478600-76479800	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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