Variant report

Variant	rs6428764
Chromosome Location	chr1:119178563-119178564
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17022302	1.00[YRI][hapmap]
rs17411912	0.83[AFR][1000 genomes]
rs1819161	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1923245	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2884879	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4025816	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56340662	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59383813	0.95[AFR][1000 genomes]
rs74116626	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7513505	0.87[AFR][1000 genomes];1.00[AMR][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	esv3494191	chr1:118772550-119719548	Enhancers Strong transcription Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	esv3494192	chr1:118772550-119719548	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:119178000-119179000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:119178400-119178600	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr1:119178400-119179200	Enhancers	HUES6 Cell Line	embryonic stem cell

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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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