Variant report

Variant	rs28754336
Chromosome Location	chr17:16558683-16558684
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 116 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:108)

rs_ID	r²[population]
rs1005369	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1005370	0.98[ASN][1000 genomes]
rs12051673	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12103873	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16959857	0.98[ASN][1000 genomes]
rs16959869	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16959870	0.98[ASN][1000 genomes]
rs28398264	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28431824	1.00[ASN][1000 genomes]
rs28458310	1.00[ASN][1000 genomes]
rs28458353	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28525101	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28525658	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28526077	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28612609	0.88[ASN][1000 genomes]
rs28626982	1.00[ASN][1000 genomes]
rs28636605	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28674185	1.00[ASN][1000 genomes]
rs28751872	1.00[ASN][1000 genomes]
rs28792801	0.98[ASN][1000 genomes]
rs28826699	0.98[ASN][1000 genomes]
rs28865976	0.98[ASN][1000 genomes]
rs28875211	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3813762	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4239135	0.82[ASN][1000 genomes]
rs4352086	1.00[ASN][1000 genomes]
rs4791672	0.98[ASN][1000 genomes]
rs4791673	0.98[ASN][1000 genomes]
rs4791676	1.00[ASN][1000 genomes]
rs4791678	1.00[ASN][1000 genomes]
rs4792757	0.98[ASN][1000 genomes]
rs4792760	0.98[ASN][1000 genomes]
rs4792761	1.00[ASN][1000 genomes]
rs4792762	1.00[ASN][1000 genomes]
rs5000166	1.00[ASN][1000 genomes]
rs55920274	0.96[ASN][1000 genomes]
rs56303920	1.00[ASN][1000 genomes]
rs57448521	0.96[ASN][1000 genomes]
rs58164310	1.00[ASN][1000 genomes]
rs59486407	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59594997	1.00[ASN][1000 genomes]
rs59826203	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62072781	0.98[ASN][1000 genomes]
rs62072790	0.86[ASN][1000 genomes]
rs62072792	0.98[ASN][1000 genomes]
rs62072845	0.94[ASN][1000 genomes]
rs62073660	0.98[ASN][1000 genomes]
rs6502514	0.98[ASN][1000 genomes]
rs7208075	1.00[ASN][1000 genomes]
rs7213274	1.00[ASN][1000 genomes]
rs7217544	0.98[ASN][1000 genomes]
rs7217717	0.98[ASN][1000 genomes]
rs7218241	1.00[ASN][1000 genomes]
rs7219632	0.98[ASN][1000 genomes]
rs7221518	1.00[ASN][1000 genomes]
rs7222622	0.82[ASN][1000 genomes]
rs7222875	1.00[ASN][1000 genomes]
rs7225641	1.00[ASN][1000 genomes]
rs7226328	0.83[ASN][1000 genomes]
rs72637355	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72637356	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72637357	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72637358	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72637359	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72637360	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72637361	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72637362	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72637363	0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8065558	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8068349	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8074285	0.98[ASN][1000 genomes]
rs8074464	0.98[ASN][1000 genomes]
rs8074487	1.00[ASN][1000 genomes]
rs8075988	0.98[ASN][1000 genomes]
rs8076849	1.00[ASN][1000 genomes]
rs8082225	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8082650	1.00[ASN][1000 genomes]
rs9889227	0.98[ASN][1000 genomes]
rs9890123	0.98[ASN][1000 genomes]
rs9890698	0.98[ASN][1000 genomes]
rs9891138	0.98[ASN][1000 genomes]
rs9894637	0.98[ASN][1000 genomes]
rs9898888	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9899785	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9899919	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9901145	0.86[ASN][1000 genomes]
rs9904901	0.98[ASN][1000 genomes]
rs9905710	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9906261	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9906728	0.98[ASN][1000 genomes]
rs9907785	0.98[ASN][1000 genomes]
rs9908015	1.00[ASN][1000 genomes]
rs9908390	1.00[ASN][1000 genomes]
rs9909044	0.98[ASN][1000 genomes]
rs9909955	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9910087	0.98[ASN][1000 genomes]
rs9910842	1.00[ASN][1000 genomes]
rs9911162	1.00[ASN][1000 genomes]
rs9911524	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9911608	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9911677	0.82[ASN][1000 genomes]
rs9911820	1.00[ASN][1000 genomes]
rs9911851	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9915121	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9916069	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9916258	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9916464	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9916819	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3330182	chr17:15652014-16569534	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
2	esv3446844	chr17:15654843-16572246	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
3	nsv1063764	chr17:16171649-16662914	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	120 gene(s)	inside rSNPs	diseases
4	nsv1058448	chr17:16389870-16926287	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	esv2758442	chr17:16527056-16817437	Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	esv2758676	chr17:16527056-16817437	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	nsv427991	chr17:16527056-16817437	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
8	nsv907720	chr17:16557606-16758204	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16557200-16561800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr17:16557400-16570000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr17:16557800-16559000	Weak transcription	NHEK	skin
4	chr17:16557800-16566000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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