Variant report

Variant	rs11863627
Chromosome Location	chr16:31331160-31331161
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:31330219..31332365-chr16:31451597..31454168,2	K562	blood:
2	chr16:31330986..31333685-chr16:31334773..31336947,2	K562	blood:

Variant related genes	Relation type
ENSG00000169896	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10747210	0.83[ASN][1000 genomes]
rs10782004	0.84[ASN][1000 genomes]
rs11150610	0.96[ASN][1000 genomes]
rs11150611	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11150612	0.85[ASN][1000 genomes]
rs11150613	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11150614	0.91[EUR][1000 genomes]
rs11150616	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1143682	0.95[ASN][1000 genomes]
rs11574630	0.84[ASN][1000 genomes]
rs11574631	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11574639	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11641202	0.99[ASN][1000 genomes]
rs11642120	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11645917	0.86[ASN][1000 genomes]
rs11859274	0.86[ASN][1000 genomes]
rs12597154	0.85[ASN][1000 genomes]
rs12923297	0.86[ASN][1000 genomes]
rs12935192	0.86[ASN][1000 genomes]
rs13338928	0.97[ASN][1000 genomes]
rs2011491	0.84[EUR][1000 genomes]
rs28372932	0.95[ASN][1000 genomes]
rs3087796	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs36100148	0.94[ASN][1000 genomes]
rs3815801	0.81[EUR][1000 genomes]
rs3925074	0.91[ASN][1000 genomes]
rs3925075	0.91[ASN][1000 genomes]
rs4075052	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4077810	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs41440449	0.95[ASN][1000 genomes]
rs4261553	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4359460	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4411512	0.90[ASN][1000 genomes]
rs4448960	0.91[ASN][1000 genomes]
rs4450409	0.82[ASN][1000 genomes]
rs4459557	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4493054	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4506917	0.91[ASN][1000 genomes]
rs4594268	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4597342	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4608351	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4889543	0.96[ASN][1000 genomes]
rs4889644	0.81[EUR][1000 genomes]
rs4889647	0.98[ASN][1000 genomes]
rs4889649	0.85[ASN][1000 genomes]
rs55742763	0.96[ASN][1000 genomes]
rs55912556	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56392848	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57202326	0.83[ASN][1000 genomes]
rs59338016	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61194152	0.84[ASN][1000 genomes]
rs62051517	0.94[ASN][1000 genomes]
rs6565225	0.87[EUR][1000 genomes]
rs7192161	0.98[ASN][1000 genomes]
rs7192375	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7195915	0.94[ASN][1000 genomes]
rs7195945	0.94[ASN][1000 genomes]
rs7203472	0.86[EUR][1000 genomes]
rs7206295	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7499192	0.87[EUR][1000 genomes]
rs8048583	0.84[EUR][1000 genomes]
rs8052324	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8058882	0.83[ASN][1000 genomes]
rs8060268	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8062159	0.83[ASN][1000 genomes]
rs929868	0.84[EUR][1000 genomes]
rs9673398	0.90[ASN][1000 genomes]
rs9673404	0.89[ASN][1000 genomes]
rs9673405	0.91[ASN][1000 genomes]
rs9673519	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9673522	0.91[ASN][1000 genomes]
rs9674009	0.91[ASN][1000 genomes]
rs9888907	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9938177	0.81[EUR][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	nsv431451	chr16:30682399-31340999	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
2	nsv1059459	chr16:31299088-31462251	Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv542901	chr16:31299088-31462251	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	esv1817837	chr16:31301125-31331958	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
5	esv3392534	chr16:31303038-31573066	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	104 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11863627	PYDC1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31323000-31344600	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr16:31326200-31333000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr16:31327400-31332200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr16:31329000-31332400	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr16:31329600-31332600	Weak transcription	Primary B cells from peripheral blood	blood
6	chr16:31330000-31331400	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr16:31330200-31331600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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