Variant report

Variant	rs17106592
Chromosome Location	chr5:146757898-146757899
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:146757683-146757936	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
STK32A	TF binding region

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10042298	0.85[JPT][hapmap]
rs10515581	0.84[JPT][hapmap];0.84[AMR][1000 genomes]
rs10515582	0.89[CHB][hapmap];0.92[JPT][hapmap];0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10515583	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11167988	0.89[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11167989	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12513884	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12514302	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12518250	0.85[JPT][hapmap];0.84[AMR][1000 genomes]
rs12518292	0.84[JPT][hapmap];0.90[AMR][1000 genomes]
rs12520080	0.85[JPT][hapmap];0.84[AMR][1000 genomes]
rs12520257	0.89[AMR][1000 genomes]
rs12520436	0.84[JPT][hapmap];0.84[AMR][1000 genomes]
rs12651731	0.89[CHB][hapmap];0.93[JPT][hapmap];0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12653560	0.84[AMR][1000 genomes]
rs1432838	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1432839	1.00[ASN][1000 genomes]
rs1432853	0.80[AMR][1000 genomes]
rs1432854	0.84[AMR][1000 genomes]
rs1432855	0.84[AMR][1000 genomes]
rs1432856	0.84[AMR][1000 genomes]
rs1432857	0.82[JPT][hapmap];0.84[AMR][1000 genomes]
rs1544816	0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs17106470	0.85[JPT][hapmap];0.84[AMR][1000 genomes]
rs17106482	0.85[JPT][hapmap];0.84[AMR][1000 genomes]
rs17106492	0.84[JPT][hapmap];0.84[AMR][1000 genomes]
rs17106560	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17106572	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs17106575	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs17106590	1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs17106597	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17106606	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17106607	0.94[ASN][1000 genomes]
rs17106679	0.84[AMR][1000 genomes]
rs17106682	0.84[AMR][1000 genomes]
rs17106686	0.84[AMR][1000 genomes]
rs17106690	0.84[AMR][1000 genomes]
rs17106698	0.84[AMR][1000 genomes]
rs17106709	0.84[AMR][1000 genomes]
rs1895566	0.84[AMR][1000 genomes]
rs2288800	0.84[AMR][1000 genomes]
rs2288805	1.00[JPT][hapmap];0.95[AMR][1000 genomes]
rs2288809	1.00[JPT][hapmap];0.95[AMR][1000 genomes]
rs2304043	0.85[JPT][hapmap];0.95[AMR][1000 genomes]
rs2304047	0.95[AMR][1000 genomes]
rs2895681	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3213857	0.93[JPT][hapmap];0.95[AMR][1000 genomes]
rs3749721	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3792837	1.00[CHB][hapmap];0.90[AMR][1000 genomes]
rs3792839	0.84[JPT][hapmap]
rs3792840	0.92[JPT][hapmap]
rs3792841	0.85[JPT][hapmap];0.86[AMR][1000 genomes]
rs3792844	0.84[AMR][1000 genomes]
rs3805533	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3805534	0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3805535	0.89[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs3805539	0.84[AMR][1000 genomes]
rs3805540	0.84[AMR][1000 genomes]
rs3805542	0.84[AMR][1000 genomes]
rs3805543	0.80[AMR][1000 genomes]
rs3805545	0.80[AMR][1000 genomes]
rs3816012	0.85[JPT][hapmap];0.86[AMR][1000 genomes]
rs4642416	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs61405762	0.98[ASN][1000 genomes]
rs73262265	0.98[ASN][1000 genomes]
rs7714240	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs972302	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015804	chr5:146066000-146788233	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv537915	chr5:146066000-146788233	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv519847	chr5:146166378-146812647	Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv599938	chr5:146169511-146806365	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv869238	chr5:146179403-146787986	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 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	chr5:146747800-146762400	Weak transcription	Fetal Kidney	kidney
2	chr5:146750000-146766200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:146750400-146762000	Weak transcription	Aorta	Aorta
4	chr5:146755600-146762400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr5:146757600-146758000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr5:146757800-146758200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
7	chr5:146757800-146758200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:146757800-146760000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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