Variant report

Variant	rs152001
Chromosome Location	chr5:50160386-50160387
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:50158794..50160929-chr5:50163393..50166084,2	K562	blood:
2	chr5:50159052..50161758-chr5:50175075..50176591,2	MCF-7	breast:

Extended variants
information (count: 41 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10471414	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.85[EUR][1000 genomes]
rs10737958	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[EUR][1000 genomes]
rs11954386	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap];0.89[EUR][1000 genomes]
rs12055210	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap];0.89[EUR][1000 genomes]
rs12153387	0.82[EUR][1000 genomes]
rs12186752	0.89[EUR][1000 genomes]
rs1375128	0.89[EUR][1000 genomes]
rs154136	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs166863	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[EUR][1000 genomes]
rs204915	0.96[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.90[EUR][1000 genomes]
rs2354533	0.89[EUR][1000 genomes]
rs2404958	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2463796	0.90[EUR][1000 genomes]
rs2463797	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[YRI][hapmap];0.89[EUR][1000 genomes]
rs2594708	0.90[EUR][1000 genomes]
rs26072	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs27243	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs27255	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap];0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs27598	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs27934	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs27964	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs282544	0.95[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.89[YRI][hapmap];0.90[EUR][1000 genomes]
rs282548	0.93[EUR][1000 genomes]
rs282555	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs282556	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.90[EUR][1000 genomes]
rs282560	0.90[EUR][1000 genomes]
rs32396	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs36077571	0.89[EUR][1000 genomes]
rs4548483	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.90[EUR][1000 genomes]
rs55932149	0.89[EUR][1000 genomes]
rs56670602	0.85[EUR][1000 genomes]
rs61401688	0.87[EUR][1000 genomes]
rs62366941	0.85[EUR][1000 genomes]
rs6450384	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[YRI][hapmap];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6450391	0.93[EUR][1000 genomes]
rs66912405	0.83[EUR][1000 genomes]
rs7717033	0.88[EUR][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	nsv462159	chr5:49960673-50229851	Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv598108	chr5:49960673-50229851	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1034445	chr5:49986171-50492609	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv598116	chr5:50064292-50318550	Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs152001	PARP8	cis	Adipose Subcutaneous	GTEx
rs152001	PARP8	cis	Esophagus Muscularis	GTEx
rs152001	LOC647121	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:50155800-50160800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:50158400-50161600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:50159200-50163600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:50159600-50161400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr5:50160000-50163400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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