Variant report

Variant	rs3008712
Chromosome Location	chr9:16017830-16017831
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs1080484	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.85[YRI][hapmap]
rs1169469	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1169471	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1169472	1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1169475	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1169476	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1169477	1.00[CHB][hapmap];0.83[YRI][hapmap];0.93[ASN][1000 genomes]
rs1169481	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1184568	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1184913	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1186048	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1186387	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1328285	0.86[ASW][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.93[ASN][1000 genomes]
rs1341733	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1359952	0.85[YRI][hapmap]
rs16933738	0.85[ASN][1000 genomes]
rs1773062	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17787306	1.00[JPT][hapmap]
rs1891209	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1935223	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2094520	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.93[ASN][1000 genomes]
rs2182934	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2182935	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.93[ASN][1000 genomes]
rs2769714	0.85[ASN][1000 genomes]
rs2769716	0.93[ASN][1000 genomes]
rs2987009	0.81[YRI][hapmap]
rs2987012	0.81[YRI][hapmap]
rs2987013	0.81[YRI][hapmap]
rs2987037	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2987040	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2987043	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2987044	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2987053	0.85[ASN][1000 genomes]
rs2987054	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2987057	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2987063	0.93[ASN][1000 genomes]
rs2987065	0.86[ASW][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.90[YRI][hapmap];0.93[ASN][1000 genomes]
rs2987066	1.00[CHB][hapmap];0.85[YRI][hapmap];0.93[ASN][1000 genomes]
rs2987073	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2987076	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2987077	0.93[ASN][1000 genomes]
rs3008666	0.80[YRI][hapmap]
rs3008669	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs3008680	0.93[ASN][1000 genomes]
rs3008681	0.85[YRI][hapmap]
rs3008682	0.86[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[YRI][hapmap];0.93[ASN][1000 genomes]
rs3008683	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs3008700	0.80[ASN][1000 genomes]
rs3008705	0.88[LWK][hapmap]
rs3008706	0.93[ASN][1000 genomes]
rs3008708	0.85[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs3008737	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3008748	0.81[YRI][hapmap]
rs3008749	0.85[YRI][hapmap]
rs3008753	0.85[YRI][hapmap]
rs3124458	0.86[ASN][1000 genomes]
rs3750402	0.93[ASN][1000 genomes]
rs6474996	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7469281	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs770203	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs770206	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs770209	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs770210	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs770212	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs770214	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs770216	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs770217	0.93[ASN][1000 genomes]
rs770218	1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.85[ASN][1000 genomes]
rs961116	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv892625	chr9:15326251-16064850	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv892637	chr9:15926508-16060746	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv949463	chr9:15970668-16377360	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv831521	chr9:15974174-16106565	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3008712	HAUS6	cis	parietal	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:16017600-16018200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr9:16017800-16018000	ZNF genes & repeats	Osteobl	bone
3	chr9:16017800-16018400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr9:16017800-16018400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin

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