Variant report

Variant	rs245161
Chromosome Location	chr5:127236220-127236221
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	chr5:127233004..127236913-chr5:127245054..127247507,3	MCF-7	breast:
2	chr5:127232675..127235268-chr5:127236126..127238266,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10491255	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.83[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs13155003	0.87[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs13166824	0.90[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs13187008	0.88[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs151848	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs151850	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs151851	1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.89[MKK][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs151852	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17164526	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.80[MKK][hapmap];0.86[TSI][hapmap];0.96[ASN][1000 genomes]
rs17164533	0.83[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs17164534	0.83[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs17839667	0.83[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs245162	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs245164	0.96[EUR][1000 genomes]
rs245166	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs245168	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs245169	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs245170	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4836339	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.86[TSI][hapmap];0.90[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs58316019	0.97[ASN][1000 genomes]
rs62375865	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs734642	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.86[TSI][hapmap];0.95[ASN][1000 genomes]
rs7708799	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.89[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs7723029	0.96[ASN][1000 genomes]
rs9327454	0.93[ASN][1000 genomes]
rs9327455	0.84[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	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1021483	chr5:126927834-127304873	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs245161	PRRC1	cis	cerebellum	SCAN
rs245161	CTXN3	cis	parietal	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127235000-127243600	Weak transcription	A549	lung
2	chr5:127235400-127237200	Weak transcription	NHLF	lung

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