Variant report

Variant	rs12137331
Chromosome Location	chr1:85385584-85385585
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12117396	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12118254	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12119634	0.82[EUR][1000 genomes]
rs12121228	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12139037	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12143480	1.00[AFR][1000 genomes]
rs12728965	0.85[EUR][1000 genomes]
rs12729681	0.85[EUR][1000 genomes]
rs12756401	0.81[EUR][1000 genomes]
rs12756966	0.81[EUR][1000 genomes]
rs34160906	1.00[AMR][1000 genomes]
rs34448848	0.81[EUR][1000 genomes]
rs34735383	0.84[AMR][1000 genomes]
rs35085075	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35386532	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35999179	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs36119952	0.81[EUR][1000 genomes]
rs71652684	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830448	chr1:85294094-85491110	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv470724	chr1:85334788-85585260	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv462383	chr1:85334788-85594466	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv546700	chr1:85334788-85594466	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS 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	9 gene(s)	inside rSNPs	diseases
5	nsv947434	chr1:85334915-85594135	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 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	chr1:85384800-85386200	Enhancers	Fetal Intestine Large	intestine
2	chr1:85385200-85385600	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr1:85385400-85385600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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