Variant report

Variant	rs3125088
Chromosome Location	chr1:10070115-10070116
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:10063214..10065997-chr1:10069062..10070630,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11121507	1.00[MEX][hapmap]
rs1220390	1.00[MEX][hapmap]
rs3003379	1.00[AMR][1000 genomes]
rs3013786	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs3013787	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs3125087	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3125089	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35922640	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4011519	1.00[AMR][1000 genomes]
rs58064995	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58762986	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59843720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61775871	1.00[AMR][1000 genomes]
rs61775875	1.00[AMR][1000 genomes]
rs61775876	1.00[AMR][1000 genomes]
rs61775877	1.00[AMR][1000 genomes]
rs61775888	1.00[AMR][1000 genomes]
rs61775891	1.00[AMR][1000 genomes]
rs6672648	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7524177	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7529458	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7551816	1.00[AMR][1000 genomes]
rs9661136	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3385337	chr1:9105242-10082223	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	549 gene(s)	inside rSNPs	diseases
2	esv3417409	chr1:9683992-10241703	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv1012469	chr1:9925714-10147796	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv1012301	chr1:9963962-10118393	Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv534853	chr1:9963962-10118393	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS 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
6	nsv1001742	chr1:9971776-10116767	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10059200-10075000	Weak transcription	Fetal Heart	heart
2	chr1:10061600-10077000	Weak transcription	Brain Hippocampus Middle	brain
3	chr1:10061800-10077200	Weak transcription	Brain Substantia Nigra	brain
4	chr1:10066800-10071000	Weak transcription	Adipose Nuclei	Adipose
5	chr1:10067400-10070200	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr1:10067400-10070200	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr1:10068000-10075600	Weak transcription	Left Ventricle	heart
8	chr1:10070000-10071000	Weak transcription	Primary neutrophils fromperipheralblood	blood

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