Variant report

Variant	rs6969144
Chromosome Location	chr7:112234247-112234248
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11971502	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11973377	1.00[EUR][1000 genomes]
rs11974313	1.00[EUR][1000 genomes]
rs11974703	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11975894	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16873392	1.00[EUR][1000 genomes]
rs17159708	1.00[EUR][1000 genomes]
rs28615445	1.00[EUR][1000 genomes]
rs3109110	1.00[EUR][1000 genomes]
rs3109111	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs6466411	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6971255	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6974737	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs7779086	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7811092	1.00[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	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
2	nsv889055	chr7:112174089-112353440	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112230800-112235200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:112233200-112235800	Active TSS	HSMMtube	muscle

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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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