Variant report

Variant	rs12354198
Chromosome Location	chr1:75469782-75469783
allele	G/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:14)

rs_ID	r²[population]
rs10158253	0.90[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10158427	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11162571	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1146405	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1405308	1.00[CHB][hapmap]
rs1413992	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1526512	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1526514	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17619801	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17620761	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17622948	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2462955	1.00[CHB][hapmap]
rs277352	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3925749	1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011745	chr1:74730942-75477618	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv535003	chr1:74730942-75477618	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv871743	chr1:75235082-75714554	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:75468800-75470000	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr1:75469000-75469800	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr1:75469000-75470000	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr1:75469000-75470000	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr1:75469200-75470000	Enhancers	HUES48 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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