Variant report

Variant	rs1424152
Chromosome Location	chr16:82225885-82225886
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs11640213	0.81[EUR][1000 genomes]
rs11862388	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1364288	0.89[CHB][hapmap];0.86[CHD][hapmap];0.87[MEX][hapmap];0.88[ASN][1000 genomes]
rs1424158	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1844727	0.82[CEU][hapmap]
rs1979649	0.82[CEU][hapmap];0.89[CHB][hapmap];0.95[MEX][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1979650	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1979652	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1979653	0.82[CEU][hapmap];0.89[CHB][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2042426	0.93[ASW][hapmap];0.81[CEU][hapmap];0.89[CHB][hapmap];0.88[CHD][hapmap];0.93[GIH][hapmap];0.82[JPT][hapmap];0.97[LWK][hapmap];0.96[MEX][hapmap];0.94[MKK][hapmap];0.83[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2042427	0.88[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2317884	0.82[CEU][hapmap];0.96[MEX][hapmap]
rs2911410	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2911411	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2911413	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2911416	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2932814	0.82[CEU][hapmap];0.89[CHB][hapmap];0.81[CHD][hapmap];0.96[MEX][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2932817	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2932818	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2932836	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2932837	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2932839	0.82[CEU][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2932840	0.81[CEU][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2967337	0.81[EUR][1000 genomes]
rs2967338	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2967339	0.82[CEU][hapmap];0.89[CHB][hapmap];0.81[CHD][hapmap];0.96[MEX][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2967340	0.82[CEU][hapmap];0.89[CHB][hapmap];0.85[GIH][hapmap];0.92[MEX][hapmap];0.83[TSI][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2967341	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2967345	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2967346	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2967347	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2967348	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2967388	0.81[CEU][hapmap];0.89[CHB][hapmap];0.88[CHD][hapmap];0.93[GIH][hapmap];0.82[JPT][hapmap];0.94[LWK][hapmap];0.91[MEX][hapmap];0.94[MKK][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2967391	0.91[CEU][hapmap];0.93[GIH][hapmap];0.97[LWK][hapmap];0.80[MEX][hapmap];0.93[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2967393	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2967394	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2967395	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2967398	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2967399	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2967410	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35268560	0.82[AMR][1000 genomes]
rs4516225	0.83[ASN][1000 genomes]
rs57676882	0.88[ASN][1000 genomes]
rs66765750	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs67779658	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs71388379	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7192520	0.88[ASN][1000 genomes]
rs7498251	0.81[AMR][1000 genomes]
rs7500500	0.82[AMR][1000 genomes]
rs7500585	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7500717	0.82[AMR][1000 genomes]
rs7500862	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8049396	0.86[ASN][1000 genomes]
rs902542	0.82[CEU][hapmap];0.83[TSI][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs902543	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs929892	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9708960	0.81[AMR][1000 genomes]
rs9745812	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9932036	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9940988	0.83[AMR][1000 genomes]
rs9941073	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532598	chr16:82034475-82738733	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv532599	chr16:82074439-82926863	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
3	nsv573367	chr16:82140561-83040846	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
4	nsv518129	chr16:82188173-82228076	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv833302	chr16:82188351-82363863	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	esv1844598	chr16:82195234-82429790	Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	esv1847414	chr16:82195234-82429790	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv532600	chr16:82197554-82314289	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv907015	chr16:82203758-82284056	Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv1065896	chr16:82213517-82731994	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1424152	MPHOSPH6	cis	lymphoblastoid	seeQTL

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82222600-82226200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr16:82223000-82231400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr16:82223400-82226200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr16:82224200-82226200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr16:82224800-82228800	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr16:82225800-82226600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr16:82225800-82227200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr16:82225800-82227400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr16:82225800-82227400	Enhancers	NHEK	skin

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