Variant report

Variant	rs8052324
Chromosome Location	chr16:31334682-31334683
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:31332982..31334824-chr16:31338109..31339685,2	MCF-7	breast:
2	chr16:31331494..31335412-chr16:31342610..31345111,3	K562	blood:
3	chr16:31200877..31205446-chr16:31331682..31336266,5	K562	blood:

Variant related genes	Relation type
ENSG00000169896	Chromatin interaction
ENSG00000089280	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10747210	0.85[ASN][1000 genomes]
rs10782004	0.85[ASN][1000 genomes]
rs11150610	0.97[ASN][1000 genomes]
rs11150611	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11150612	0.87[ASN][1000 genomes]
rs11150613	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11150614	0.91[EUR][1000 genomes]
rs11150616	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1143682	0.97[ASN][1000 genomes]
rs11574630	0.85[ASN][1000 genomes]
rs11574631	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11574639	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11641202	0.96[ASN][1000 genomes]
rs11642120	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11645917	0.87[ASN][1000 genomes]
rs11859274	0.87[ASN][1000 genomes]
rs11863627	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12597154	0.87[ASN][1000 genomes]
rs12600286	0.81[ASN][1000 genomes]
rs12923297	0.87[ASN][1000 genomes]
rs12935192	0.87[ASN][1000 genomes]
rs13338928	0.98[ASN][1000 genomes]
rs2011491	0.83[EUR][1000 genomes]
rs28372932	0.97[ASN][1000 genomes]
rs3087796	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36100148	0.96[ASN][1000 genomes]
rs3925074	0.92[ASN][1000 genomes]
rs3925075	0.92[ASN][1000 genomes]
rs4075052	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4077810	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs41440449	0.97[ASN][1000 genomes]
rs4261553	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4359460	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4411512	0.92[ASN][1000 genomes]
rs4448960	0.92[ASN][1000 genomes]
rs4450409	0.84[ASN][1000 genomes]
rs4459557	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4493054	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4506917	0.92[ASN][1000 genomes]
rs4594268	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4597342	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4608351	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4889543	0.97[ASN][1000 genomes]
rs4889647	0.95[ASN][1000 genomes]
rs4889649	0.87[ASN][1000 genomes]
rs55742763	0.97[ASN][1000 genomes]
rs55912556	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56392848	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57202326	0.84[ASN][1000 genomes]
rs59338016	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61194152	0.86[ASN][1000 genomes]
rs62051517	0.96[ASN][1000 genomes]
rs6565225	0.85[EUR][1000 genomes]
rs7192161	0.95[ASN][1000 genomes]
rs7192375	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7195915	0.96[ASN][1000 genomes]
rs7195945	0.96[ASN][1000 genomes]
rs7203472	0.85[EUR][1000 genomes]
rs7206295	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7499192	1.00[YRI][hapmap];0.85[EUR][1000 genomes]
rs7501207	0.81[ASN][1000 genomes]
rs8048583	0.83[EUR][1000 genomes]
rs8058882	0.85[ASN][1000 genomes]
rs8060268	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8062159	0.85[ASN][1000 genomes]
rs929868	0.83[EUR][1000 genomes]
rs9673398	0.92[ASN][1000 genomes]
rs9673404	0.91[ASN][1000 genomes]
rs9673405	0.92[ASN][1000 genomes]
rs9673519	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9673522	0.92[ASN][1000 genomes]
rs9674009	0.92[ASN][1000 genomes]
rs9888907	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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
rs8052324	PYDC1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31323000-31344600	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr16:31331800-31342000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr16:31332200-31342000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr16:31333400-31335200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
5	chr16:31333600-31339600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr16:31333600-31342400	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr16:31333800-31342400	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr16:31334000-31338200	Weak transcription	Primary B cells from cord blood	blood
9	chr16:31334200-31335600	Weak transcription	Spleen	Spleen
10	chr16:31334400-31335800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr16:31334600-31339600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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