Variant report

Variant	rs17106575
Chromosome Location	chr5:146754426-146754427
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10042298	0.87[CHB][hapmap];0.93[JPT][hapmap]
rs10070932	0.80[JPT][hapmap]
rs10477336	0.80[JPT][hapmap]
rs10515580	0.80[JPT][hapmap]
rs10515581	0.87[CHB][hapmap];0.93[JPT][hapmap]
rs10515582	0.93[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10515583	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs11167988	0.87[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs11167989	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11748615	0.80[JPT][hapmap]
rs11951154	0.80[JPT][hapmap]
rs11954789	0.81[JPT][hapmap]
rs12513884	0.89[ASN][1000 genomes]
rs12514302	1.00[CHB][hapmap];0.93[JPT][hapmap];0.83[ASN][1000 genomes]
rs12518250	0.87[CHB][hapmap];0.93[JPT][hapmap]
rs12520080	0.86[CHB][hapmap];0.93[JPT][hapmap]
rs12520257	0.82[ASN][1000 genomes]
rs12520436	0.81[CHB][hapmap];0.93[JPT][hapmap]
rs12651731	0.93[CHB][hapmap];0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs12659468	0.81[JPT][hapmap]
rs1432838	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1432839	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1432854	0.80[CHB][hapmap]
rs1432855	0.81[CHB][hapmap]
rs1432856	0.81[CHB][hapmap]
rs1432857	0.86[CHB][hapmap]
rs1544816	0.86[ASN][1000 genomes]
rs17106458	0.80[JPT][hapmap]
rs17106470	0.87[CHB][hapmap];0.93[JPT][hapmap]
rs17106482	0.87[CHB][hapmap];0.93[JPT][hapmap]
rs17106492	0.87[CHB][hapmap];0.93[JPT][hapmap]
rs17106560	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs17106572	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs17106590	1.00[ASN][1000 genomes]
rs17106592	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs17106597	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs17106606	0.94[ASN][1000 genomes]
rs17106607	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17106679	0.81[CHB][hapmap]
rs17106682	0.81[CHB][hapmap]
rs17106683	0.81[CHB][hapmap]
rs17106686	0.81[CHB][hapmap]
rs17106688	0.80[CHB][hapmap]
rs17106689	0.81[CHB][hapmap]
rs17106690	0.81[CHB][hapmap]
rs2288800	0.81[CHB][hapmap]
rs2288805	0.87[CHB][hapmap];0.92[JPT][hapmap]
rs2288809	0.87[CHB][hapmap];0.92[JPT][hapmap]
rs2400295	0.81[JPT][hapmap]
rs2895681	0.89[ASN][1000 genomes]
rs3213857	0.87[CHB][hapmap];0.86[JPT][hapmap]
rs3749721	1.00[CHB][hapmap];0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs3792837	1.00[CHB][hapmap]
rs3792839	0.80[CHB][hapmap]
rs3792840	0.86[JPT][hapmap]
rs3792844	0.81[CHB][hapmap]
rs3792845	0.80[CHB][hapmap]
rs3792846	0.80[CHB][hapmap]
rs3805533	1.00[CHB][hapmap];0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs3805534	0.94[CHB][hapmap];0.93[JPT][hapmap];0.82[ASN][1000 genomes]
rs3805535	0.93[CHB][hapmap];0.92[JPT][hapmap];0.81[ASN][1000 genomes]
rs3805539	0.80[CHB][hapmap]
rs3805540	0.81[CHB][hapmap]
rs3816012	0.81[CHB][hapmap]
rs4642416	0.89[ASN][1000 genomes]
rs4705165	0.80[JPT][hapmap]
rs4705166	0.80[JPT][hapmap]
rs61405762	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6872292	0.81[JPT][hapmap]
rs6884181	0.80[JPT][hapmap]
rs6891468	0.81[CHB][hapmap]
rs73262265	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7707452	0.80[JPT][hapmap]
rs7710577	0.83[YRI][hapmap]
rs7714240	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs918798	0.80[JPT][hapmap]
rs972302	1.00[CHB][hapmap];1.00[JPT][hapmap];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	chr5:146749600-146757400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:146750000-146766200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:146750400-146756400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr5:146750400-146762000	Weak transcription	Aorta	Aorta
6	chr5:146751400-146757600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr5:146752800-146754800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr5:146754000-146757800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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