Variant report

Variant	rs4252135
Chromosome Location	chr6:161154232-161154233
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:161153756..161154634-chr6:161794865..161795506,2	K562	blood:
2	chr6:161152558..161154302-chr6:161794607..161797169,2	K562	blood:
3	chr6:161153719..161154752-chr6:161413517..161414074,3	K562	blood:
4	chr6:161152558..161155557-chr6:161793126..161797169,4	K562	blood:
5	chr6:161154056..161155892-chr6:161501781..161503522,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1321197	0.92[EUR][1000 genomes]
rs13231	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1853016	0.91[EUR][1000 genomes]
rs1853017	0.91[EUR][1000 genomes]
rs1853018	0.92[EUR][1000 genomes]
rs1897108	0.92[EUR][1000 genomes]
rs28402939	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35513104	0.90[EUR][1000 genomes]
rs4252066	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4252072	0.94[EUR][1000 genomes]
rs4252076	0.94[EUR][1000 genomes]
rs4252078	0.91[EUR][1000 genomes]
rs4252082	0.90[EUR][1000 genomes]
rs4252086	0.91[EUR][1000 genomes]
rs4252087	0.91[EUR][1000 genomes]
rs4252090	0.95[EUR][1000 genomes]
rs4252093	0.95[EUR][1000 genomes]
rs4252096	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4252107	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4252109	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4252114	0.92[EUR][1000 genomes]
rs4252117	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4252120	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4252125	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4252126	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4252130	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4252134	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4252147	1.00[CEU][hapmap]
rs4252151	0.95[EUR][1000 genomes]
rs4252165	1.00[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4252181	0.84[EUR][1000 genomes]
rs56093624	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56262039	0.82[EUR][1000 genomes]
rs59614420	0.94[EUR][1000 genomes]
rs60198722	0.81[EUR][1000 genomes]
rs62439804	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62439805	0.89[EUR][1000 genomes]
rs9456578	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9456580	0.82[EUR][1000 genomes]
rs9458012	0.84[EUR][1000 genomes]
rs9458016	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9458017	1.00[CEU][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9458019	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9458020	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9458022	0.83[EUR][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	esv2758089	chr6:160372244-161234665	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	esv2759484	chr6:160372244-161234665	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv1019113	chr6:161127584-161197558	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv3352911	chr6:161140543-161324358	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv522773	chr6:161152449-161170835	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4252135	PLG	cis	multi-tissue	Pritchard

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161140800-161175200	Strong transcription	Liver	Liver
2	chr6:161154200-161154400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr6:161154200-161154400	Enhancers	Brain Cingulate Gyrus	brain
4	chr6:161154200-161156000	Enhancers	GM12878-XiMat	blood

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