Variant report

Variant	rs1253945
Chromosome Location	chr10:44911825-44911826
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1023260	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11239048	0.87[EUR][1000 genomes]
rs1147921	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1147923	0.98[ASN][1000 genomes]
rs1147924	0.89[EUR][1000 genomes]
rs1147926	0.89[EUR][1000 genomes]
rs1147932	0.88[EUR][1000 genomes]
rs1147935	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1253720	0.89[EUR][1000 genomes]
rs1253721	0.88[EUR][1000 genomes]
rs1253722	0.89[EUR][1000 genomes]
rs1253723	0.89[EUR][1000 genomes]
rs1253731	0.88[EUR][1000 genomes]
rs1253732	0.89[EUR][1000 genomes]
rs1253733	0.88[EUR][1000 genomes]
rs1253734	0.88[EUR][1000 genomes]
rs1253735	0.88[EUR][1000 genomes]
rs1253736	0.88[EUR][1000 genomes]
rs1253743	0.88[EUR][1000 genomes]
rs1253745	0.88[EUR][1000 genomes]
rs1253747	0.89[EUR][1000 genomes]
rs1253928	1.00[ASW][hapmap];0.90[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.85[MEX][hapmap];0.90[MKK][hapmap];0.84[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1253929	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1253930	0.90[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1253931	0.88[EUR][1000 genomes]
rs1253932	1.00[ASW][hapmap];0.90[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.85[MEX][hapmap];0.81[MKK][hapmap];0.84[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1253933	1.00[ASW][hapmap];0.90[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.85[MEX][hapmap];0.90[MKK][hapmap];0.84[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1253941	1.00[ASW][hapmap];0.90[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.85[MEX][hapmap];0.97[MKK][hapmap];0.84[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1253942	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1253946	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1272678	0.88[EUR][1000 genomes]
rs1419282	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1591285	0.87[EUR][1000 genomes]
rs1628283	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1761316	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1761325	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1761331	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1761334	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1761347	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1779343	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1779380	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1779381	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1779383	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1892034	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1892035	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1892037	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2096331	0.82[EUR][1000 genomes]
rs2781548	0.88[EUR][1000 genomes]
rs2781549	0.88[EUR][1000 genomes]
rs2799712	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs915082	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895101	chr10:44909081-45007131	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1253945	ALOX5	cis	parietal	SCAN
rs1253945	TMEM72	cis	cerebellum	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:44907000-44918400	Weak transcription	Right Atrium	heart
2	chr10:44911200-44912600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr10:44911400-44913000	Enhancers	Adipose Nuclei	Adipose
4	chr10:44911400-44913000	Enhancers	Colon Smooth Muscle	Colon
5	chr10:44911400-44913200	Enhancers	Fetal Muscle Leg	muscle
6	chr10:44911600-44912200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr10:44911600-44912200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr10:44911600-44912200	Enhancers	Osteobl	bone
9	chr10:44911600-44912400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr10:44911600-44912400	Enhancers	Brain Germinal Matrix	brain
11	chr10:44911600-44913000	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr10:44911600-44913000	Enhancers	Brain Hippocampus Middle	brain
13	chr10:44911600-44913000	Enhancers	Fetal Lung	lung
14	chr10:44911600-44913000	Enhancers	Fetal Stomach	stomach
15	chr10:44911600-44913200	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr10:44911800-44912200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr10:44911800-44912200	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr10:44911800-44912200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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