Variant report

Variant	rs1423657
Chromosome Location	chr5:35887290-35887291
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10044883	1.00[ASN][1000 genomes]
rs10063445	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10074095	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10074127	0.96[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10461959	0.96[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10941267	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11567762	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12055232	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12516866	0.82[CHB][hapmap];0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs1353251	0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1389830	0.96[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1389831	0.95[ASN][1000 genomes]
rs1423658	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1494555	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1494556	0.96[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1494557	0.95[ASN][1000 genomes]
rs1494567	0.91[JPT][hapmap]
rs1862634	0.97[ASN][1000 genomes]
rs2201408	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2361396	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3777090	0.96[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4141646	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6451227	0.93[ASN][1000 genomes]
rs6451228	0.95[ASN][1000 genomes]
rs6451230	0.95[ASN][1000 genomes]
rs6862142	0.91[JPT][hapmap]
rs6870944	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6893142	0.96[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7711202	0.95[ASN][1000 genomes]
rs7711268	0.92[ASN][1000 genomes]
rs7716064	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs852246	0.80[EUR][1000 genomes]
rs852249	0.86[JPT][hapmap]
rs852250	0.86[JPT][hapmap]
rs852251	0.80[EUR][1000 genomes]
rs852252	0.80[EUR][1000 genomes]
rs852253	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs860414	0.80[EUR][1000 genomes]
rs860416	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs863781	0.80[EUR][1000 genomes]
rs9292616	0.96[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs9292617	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs969129	0.95[ASN][1000 genomes]

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	nsv1022761	chr5:35775802-35902546	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv471011	chr5:35861068-36003217	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv830261	chr5:35863084-36018048	Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:35882800-35887800	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr5:35883200-35887800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr5:35883400-35887600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr5:35883600-35888400	Enhancers	Dnd41	blood
5	chr5:35884800-35889200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr5:35885000-35887400	Weak transcription	Thymus	Thymus
7	chr5:35885200-35887400	Weak transcription	Fetal Thymus	thymus
8	chr5:35885200-35890600	Weak transcription	NHEK	skin
9	chr5:35885400-35887600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr5:35885400-35889800	Weak transcription	NHLF	lung
11	chr5:35885400-35890400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr5:35885600-35887400	Weak transcription	HMEC	breast
13	chr5:35885600-35890600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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