Variant report

Variant	rs12116904
Chromosome Location	chr1:76481688-76481689
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10493579	0.86[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11162068	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11581154	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1251569	1.00[YRI][hapmap]
rs17097933	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17599188	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17660966	1.00[YRI][hapmap]
rs2992502	1.00[YRI][hapmap]
rs3011997	1.00[YRI][hapmap]
rs387214	1.00[YRI][hapmap]
rs58865154	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs603022	1.00[YRI][hapmap]
rs61771294	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6669349	0.80[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	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
2	esv3362236	chr1:76481400-76481990	Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76479800-76484000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:76479800-76484200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:76481000-76483600	ZNF genes & repeats	hESC Derived CD184+ Endoderm 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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