Variant report

Variant	rs9923270
Chromosome Location	chr16:31255784-31255785
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10438639	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11641624	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11645526	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11865830	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12929077	0.81[EUR][1000 genomes]
rs1808430	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2011491	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2359661	0.81[ASN][1000 genomes]
rs2735393	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3764327	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3815801	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4447446	0.81[ASN][1000 genomes]
rs4561481	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4889537	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4889538	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4889633	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4889639	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4889640	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60660286	0.90[ASN][1000 genomes]
rs6565225	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7186832	0.81[EUR][1000 genomes]
rs7193943	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7196256	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs741810	0.83[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs7499192	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8044075	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8047985	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8048583	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8051304	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8057320	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8062426	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs889549	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs889551	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs929868	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9938177	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	nsv1066073	chr16:31219071-31278572	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9923270	PYDC1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31250400-31262600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr16:31252600-31258000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr16:31253600-31257000	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr16:31253600-31257800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr16:31253800-31257200	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr16:31253800-31259200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr16:31254000-31257000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr16:31254000-31257000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr16:31254000-31257000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr16:31254200-31256600	Enhancers	Primary B cells from cord blood	blood
11	chr16:31254200-31256600	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr16:31254200-31259000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr16:31254400-31255800	Weak transcription	Spleen	Spleen
14	chr16:31254800-31256000	Enhancers	Primary hematopoietic stem cells	blood
15	chr16:31255000-31257200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr16:31255200-31256000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
17	chr16:31255200-31256000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr16:31255200-31256600	Enhancers	Primary B cells from peripheral blood	blood
19	chr16:31255400-31255800	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr16:31255400-31255800	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr16:31255400-31255800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr16:31255400-31256000	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr16:31255400-31256000	Flanking Active TSS	GM12878-XiMat	blood
24	chr16:31255400-31256000	Enhancers	K562	blood
25	chr16:31255600-31256600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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