Variant report

Variant	rs632251
Chromosome Location	chr3:135951491-135951492
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10935177	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs10935182	0.81[JPT][hapmap]
rs1145106	0.81[JPT][hapmap]
rs1153870	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1153872	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1153877	0.82[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs1154988	1.00[JPT][hapmap]
rs1278493	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1279086	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs1279425	0.86[JPT][hapmap]
rs1279831	0.82[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1279840	0.86[JPT][hapmap]
rs1279949	0.83[ASN][1000 genomes]
rs1711171	0.86[JPT][hapmap]
rs2459412	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2655008	0.81[JPT][hapmap]
rs3755636	0.86[JPT][hapmap]
rs3957816	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4678428	0.86[JPT][hapmap]
rs483465	0.86[JPT][hapmap]
rs518972	0.86[JPT][hapmap]
rs548288	0.86[JPT][hapmap]
rs556788	0.86[JPT][hapmap]
rs570621	0.83[ASN][1000 genomes]
rs571513	0.86[JPT][hapmap]
rs576771	0.81[JPT][hapmap]
rs589092	0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs590198	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs606725	0.86[JPT][hapmap]
rs619605	0.81[JPT][hapmap]
rs634559	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs642075	0.83[ASN][1000 genomes]
rs645040	1.00[JPT][hapmap]
rs650326	0.86[JPT][hapmap]
rs654237	0.81[JPT][hapmap]
rs655836	0.81[JPT][hapmap]
rs661739	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs667920	0.86[JPT][hapmap]
rs668437	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs684195	0.83[ASN][1000 genomes]
rs684773	1.00[JPT][hapmap]
rs687339	1.00[JPT][hapmap]
rs695983	0.81[JPT][hapmap]
rs696081	0.86[JPT][hapmap]
rs696516	0.81[JPT][hapmap]
rs696518	0.81[JPT][hapmap]
rs696520	0.86[JPT][hapmap]
rs698270	0.81[JPT][hapmap]
rs7372313	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs895894	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9810089	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs9811753	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs9840812	1.00[JPT][hapmap]
rs9845457	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869409	chr3:135649101-136164174	Strong transcription Genic enhancers Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv508246	chr3:135922023-136038622	Active TSS Enhancers Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv2760738	chr3:135943988-135957333	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs632251	PCCB	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:135951200-135951800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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