Variant report

Variant	rs1808430
Chromosome Location	chr16:31258993-31258994
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:31204218..31206078-chr16:31258405..31260690,2	K562	blood:
2	chr16:31253838..31255685-chr16:31257972..31259890,2	K562	blood:
3	chr16:31231842..31234497-chr16:31258086..31260993,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10438639	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1052352	0.83[JPT][hapmap]
rs1106398	0.81[CHB][hapmap]
rs11150613	0.86[CHB][hapmap]
rs11574630	0.81[CHB][hapmap]
rs11574631	0.86[CHB][hapmap]
rs11641624	0.91[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11645526	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11864632	0.92[CEU][hapmap];0.84[JPT][hapmap]
rs11865830	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12449089	0.84[ASN][1000 genomes]
rs12929077	0.92[CEU][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes]
rs13336592	0.88[CEU][hapmap]
rs2011491	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2288005	0.83[JPT][hapmap]
rs2359661	0.80[CEU][hapmap];0.92[CHB][hapmap];0.81[ASN][1000 genomes]
rs2735393	0.92[CEU][hapmap];0.83[JPT][hapmap]
rs3087796	0.84[CHB][hapmap]
rs3764327	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3815801	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4077810	0.86[CHB][hapmap]
rs4447446	0.81[ASN][1000 genomes]
rs4459557	0.86[CHB][hapmap]
rs4561481	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4597342	0.86[CHB][hapmap]
rs4889537	0.92[CEU][hapmap];0.83[JPT][hapmap]
rs4889639	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4889640	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60660286	0.96[ASN][1000 genomes]
rs6565225	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7186832	0.92[CEU][hapmap];0.83[JPT][hapmap];0.82[AMR][1000 genomes]
rs7187143	0.92[CEU][hapmap];0.87[JPT][hapmap]
rs7193943	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7196256	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7206295	0.86[CHB][hapmap]
rs741810	0.92[CEU][hapmap];0.83[JPT][hapmap]
rs7499192	0.84[CEU][hapmap];0.92[CHB][hapmap];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8044075	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8047985	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8048583	0.96[CEU][hapmap];0.92[CHB][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8051304	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8056505	0.92[CEU][hapmap];0.83[JPT][hapmap]
rs8057320	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8060268	0.86[CHB][hapmap]
rs8062426	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs889549	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs889551	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs929868	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9673519	0.89[CHB][hapmap]
rs9923270	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9938177	0.89[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
rs1808430	PYDC1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:13 , 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	chr16:31253800-31259200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr16:31254200-31259000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr16:31256000-31259200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr16:31256000-31259200	Weak transcription	K562	blood
6	chr16:31256600-31264000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr16:31256600-31264200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr16:31257600-31259200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr16:31257800-31260200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr16:31258000-31259200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr16:31258000-31259200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr16:31258000-31263400	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr16:31258600-31259400	Enhancers	iPS-18 Cell Line	embryonic stem cell

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