Variant report

Variant	rs33977434
Chromosome Location	chr4:122254119-122254120
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10433907	0.87[AFR][1000 genomes]
rs10857080	1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs11098612	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12499042	0.91[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs12499677	0.83[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs12507514	0.89[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs12507798	0.89[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs13114721	0.91[YRI][hapmap];0.89[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs13131526	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs13132035	0.91[CHB][hapmap];0.85[CHD][hapmap];0.86[JPT][hapmap];0.90[LWK][hapmap];1.00[YRI][hapmap]
rs13140266	0.82[AFR][1000 genomes]
rs13144655	0.90[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap]
rs1513708	0.91[YRI][hapmap];0.84[AFR][1000 genomes]
rs1606576	0.89[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2013332	0.81[JPT][hapmap]
rs2276957	1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2302310	1.00[CEU][hapmap];0.87[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2390137	0.89[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs4240259	0.91[CHB][hapmap];0.85[CHD][hapmap];0.86[JPT][hapmap];0.90[LWK][hapmap];1.00[YRI][hapmap]
rs4833715	0.89[AFR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998094	chr4:121504565-122374203	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1009395	chr4:121841442-122557363	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv537235	chr4:121841442-122557363	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv879859	chr4:121892490-122438312	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv817261	chr4:122085173-123020068	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs33977434	PRSS12	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:122248000-122260000	Weak transcription	Fetal Heart	heart
2	chr4:122248000-122263200	Weak transcription	Left Ventricle	heart
3	chr4:122249600-122255200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr4:122249600-122258000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:122253200-122254200	Strong transcription	HMEC	breast

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