Variant report

Variant	rs17450114
Chromosome Location	chr5:59481878-59481879
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr5:59481404-59482201	SK-N-SH	brain:	n/a	n/a
2	TCF12	chr5:59481266-59482085	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
PDE4D	TF binding region

Extended variants
information (count: 64 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10044529	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10514887	0.90[MEX][hapmap]
rs10514902	0.96[ASN][1000 genomes]
rs11742066	0.80[ASN][1000 genomes]
rs11743973	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs11743977	0.96[ASN][1000 genomes]
rs11744029	0.96[ASN][1000 genomes]
rs11745357	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.96[ASN][1000 genomes]
rs11747070	0.96[ASN][1000 genomes]
rs12189373	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12522367	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs13153508	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13160073	0.96[ASN][1000 genomes]
rs13175365	0.96[ASN][1000 genomes]
rs13177765	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs13177799	0.82[ASW][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.96[ASN][1000 genomes]
rs13179177	0.96[ASN][1000 genomes]
rs1396476	1.00[CHB][hapmap];0.96[ASN][1000 genomes]
rs1508863	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs16890455	0.81[MEX][hapmap]
rs16890459	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16890516	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs16890521	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs16890523	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs17376533	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs17376568	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.87[TSI][hapmap];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17376761	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.96[ASN][1000 genomes]
rs17376788	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs17442232	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs17449821	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17449877	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1876671	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2013733	1.00[CHB][hapmap];0.96[ASN][1000 genomes]
rs2113072	0.87[TSI][hapmap]
rs2910835	0.96[ASN][1000 genomes]
rs2910836	0.96[ASN][1000 genomes]
rs2910837	0.96[ASN][1000 genomes]
rs2910839	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2961898	0.96[ASN][1000 genomes]
rs2961899	0.96[ASN][1000 genomes]
rs2961900	1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2962976	0.92[ASN][1000 genomes]
rs34065204	0.96[ASN][1000 genomes]
rs34849712	0.96[ASN][1000 genomes]
rs34913883	0.89[ASN][1000 genomes]
rs34932216	0.96[ASN][1000 genomes]
rs35123365	0.96[ASN][1000 genomes]
rs35265720	0.88[ASN][1000 genomes]
rs35396745	0.96[ASN][1000 genomes]
rs36145010	0.96[ASN][1000 genomes]
rs3857299	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs41506252	0.82[JPT][hapmap]
rs4260627	0.96[ASN][1000 genomes]
rs56726267	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58203101	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59779697	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60168090	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71627985	0.96[ASN][1000 genomes]
rs71627988	0.96[ASN][1000 genomes]
rs7703217	0.95[AFR][1000 genomes];0.85[EUR][1000 genomes];0.80[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	nsv1018015	chr5:58889470-59532667	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv537766	chr5:58889470-59532667	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv1025856	chr5:59188419-59928852	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv830316	chr5:59480269-59689829	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17450114	IL32	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59471600-59500800	Weak transcription	Primary B cells from cord blood	blood
2	chr5:59476400-59484000	Weak transcription	Aorta	Aorta
3	chr5:59479000-59482000	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr5:59480600-59482800	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr5:59481600-59483000	Enhancers	Fetal Kidney	kidney
6	chr5:59481800-59482200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr5:59481800-59483800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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