Variant report

Variant	rs6871617
Chromosome Location	chr5:16990452-16990453
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs62369703	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62369704	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62369706	1.00[EUR][1000 genomes]
rs62369707	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62369708	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62369733	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62369734	0.88[EUR][1000 genomes]
rs62369735	0.88[EUR][1000 genomes]
rs62369736	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs62369740	0.87[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs62369741	0.87[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs62369742	0.87[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs62369743	0.87[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs62369745	0.87[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs62369746	0.89[EUR][1000 genomes]
rs62369747	0.82[EUR][1000 genomes]
rs62369758	0.89[EUR][1000 genomes]
rs62369759	0.83[EUR][1000 genomes]
rs62371260	0.89[EUR][1000 genomes]
rs62371264	0.86[EUR][1000 genomes]
rs62371265	0.86[EUR][1000 genomes]
rs6878477	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6893707	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7713677	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7718879	0.89[EUR][1000 genomes]
rs7732353	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs7733116	0.90[AMR][1000 genomes];1.00[EUR][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	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
8	esv1793716	chr5:16989318-17019351	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 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	chr5:16978600-16991400	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	chr5:16988200-16994600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr5:16989200-16991800	Weak transcription	NH-A	brain
5	chr5:16989600-16991800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr5:16990200-16990800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr5:16990400-16990600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr5:16990400-16990800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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