Variant report

Variant	rs889549
Chromosome Location	chr16:31266951-31266952
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:31266292..31269250-chr16:31272108..31275023,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10438639	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11641624	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11645526	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11865830	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12449089	0.81[ASN][1000 genomes]
rs1808430	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2011491	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2359661	0.84[ASN][1000 genomes]
rs3764327	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3815801	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4447446	0.84[ASN][1000 genomes]
rs4561481	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4889639	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4889640	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4889644	0.81[EUR][1000 genomes]
rs60660286	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6565225	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7193943	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7196256	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7499192	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8044075	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8047985	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8048583	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8051304	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8057320	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8062426	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs889551	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs929868	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9923270	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9938177	0.92[EUR][1000 genomes];0.90[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
rs889549	PYDC1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31262800-31271800	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr16:31263000-31271000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr16:31263400-31268400	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr16:31264200-31268200	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr16:31265200-31270600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr16:31265200-31271400	Weak transcription	Right Atrium	heart
7	chr16:31265200-31271600	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr16:31265200-31276600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr16:31265400-31270800	Weak transcription	Spleen	Spleen
10	chr16:31265600-31267200	Enhancers	Primary hematopoietic stem cells	blood
11	chr16:31265600-31268200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr16:31265600-31268200	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr16:31265600-31269800	Weak transcription	GM12878-XiMat	blood
14	chr16:31265600-31270200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr16:31265800-31269600	Weak transcription	Primary B cells from peripheral blood	blood
16	chr16:31265800-31271200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr16:31265800-31276400	Weak transcription	A549	lung
18	chr16:31266200-31269800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr16:31266600-31267000	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr16:31266600-31267200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr16:31266600-31269600	Weak transcription	Primary B cells from cord blood	blood
22	chr16:31266800-31267600	Enhancers	K562	blood

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