Variant report

Variant	rs12133879
Chromosome Location	chr1:166643307-166643308
allele	A/G
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:13)

rs_ID	r²[population]
rs12122205	0.83[EUR][1000 genomes]
rs12137113	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12141155	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12141514	0.94[EUR][1000 genomes]
rs3856213	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6699341	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72691693	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72691941	0.82[EUR][1000 genomes]
rs72691944	0.82[EUR][1000 genomes]
rs72691946	0.82[EUR][1000 genomes]
rs72701323	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7522158	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7532454	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916491	chr1:166000783-166948513	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	esv2757759	chr1:166491879-166650985	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv2758975	chr1:166491879-166650985	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2752389	chr1:166625342-166706342	Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	3 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	chr1:166641000-166643600	Enhancers	K562	blood
2	chr1:166642600-166643400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr1:166642800-166643400	Enhancers	Dnd41	blood
4	chr1:166643000-166643400	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr1:166643000-166643400	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood

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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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