Variant report

Variant	rs12519717
Chromosome Location	chr5:16984504-16984505
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10462606	0.94[ASN][1000 genomes]
rs10462730	0.87[ASN][1000 genomes]
rs10462731	0.94[ASN][1000 genomes]
rs10462732	0.89[ASN][1000 genomes]
rs10462733	0.94[ASN][1000 genomes]
rs10462734	0.94[ASN][1000 genomes]
rs10462735	0.94[ASN][1000 genomes]
rs10462738	0.82[ASN][1000 genomes]
rs10866517	1.00[ASN][1000 genomes]
rs11133867	1.00[ASN][1000 genomes]
rs11740268	0.99[ASN][1000 genomes]
rs11742169	0.89[ASN][1000 genomes]
rs11744277	1.00[ASN][1000 genomes]
rs11745683	0.89[ASN][1000 genomes]
rs11746872	1.00[ASN][1000 genomes]
rs11748695	0.89[ASN][1000 genomes]
rs11750235	0.99[ASN][1000 genomes]
rs12516084	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12517442	0.92[ASN][1000 genomes]
rs12521168	0.88[AMR][1000 genomes]
rs17542826	1.00[ASN][1000 genomes]
rs34404690	1.00[ASN][1000 genomes]
rs3853122	1.00[ASN][1000 genomes]
rs62369700	1.00[ASN][1000 genomes]
rs6867528	1.00[ASN][1000 genomes]
rs6867753	1.00[ASN][1000 genomes]
rs6868506	1.00[ASN][1000 genomes]
rs6873423	1.00[ASN][1000 genomes]
rs6874315	1.00[ASN][1000 genomes]
rs6874372	1.00[ASN][1000 genomes]
rs6877823	0.97[ASN][1000 genomes]
rs6885964	0.89[ASN][1000 genomes]
rs6886055	0.89[ASN][1000 genomes]
rs6886111	0.89[ASN][1000 genomes]
rs6886590	0.92[ASN][1000 genomes]
rs6890004	1.00[ASN][1000 genomes]
rs6896683	1.00[ASN][1000 genomes]
rs9765318	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025225	chr5:16714512-17234866	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1015247	chr5:16748966-17133274	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv880277	chr5:16829442-17316288	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	esv3510797	chr5:16966764-17125849	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv3510798	chr5:16966764-17125849	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv1795984	chr5:16973769-17078295	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv597311	chr5:16980857-17012775	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16978600-16991400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:16981600-16994200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr5:16983000-16985800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr5:16983400-16985200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:16983400-16986200	Weak transcription	Rectal Mucosa Donor 31	rectum

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