Variant report

Variant	rs6469668
Chromosome Location	chr8:118022485-118022486
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:118020240..118022931-chr8:118026040..118028339,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1001646	0.83[JPT][hapmap]
rs10429428	0.87[ASN][1000 genomes]
rs10429430	0.90[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs1155178	0.83[JPT][hapmap]
rs12542825	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12675339	0.91[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs13269147	0.91[JPT][hapmap]
rs1596895	0.91[JPT][hapmap]
rs17745041	0.91[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs1995581	0.88[ASW][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs2047962	0.91[CHB][hapmap];0.95[CHD][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs2047963	1.00[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2047964	0.93[GIH][hapmap]
rs2921722	0.91[JPT][hapmap]
rs2938864	0.91[GIH][hapmap]
rs3019879	0.91[GIH][hapmap];0.83[JPT][hapmap]
rs3019885	0.91[GIH][hapmap]
rs3019886	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3020107	0.83[CHB][hapmap];0.95[JPT][hapmap]
rs3020108	0.91[JPT][hapmap]
rs3020110	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs3020114	0.91[JPT][hapmap]
rs3020115	0.91[JPT][hapmap]
rs3020116	0.91[JPT][hapmap]
rs3020119	0.91[GIH][hapmap]
rs4242567	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4242568	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4269571	1.00[CHB][hapmap];0.90[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap]
rs4510896	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs55926302	0.87[ASN][1000 genomes]
rs56956780	0.86[ASN][1000 genomes]
rs58928889	0.83[ASN][1000 genomes]
rs60486060	0.86[ASN][1000 genomes]
rs6469667	0.91[GIH][hapmap];0.83[JPT][hapmap]
rs6469669	0.83[JPT][hapmap]
rs6987643	0.86[CHB][hapmap];0.95[CHD][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs7009891	0.83[JPT][hapmap]
rs7013929	0.86[ASN][1000 genomes]
rs7842705	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs921067	0.87[CHB][hapmap];0.95[JPT][hapmap]

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	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1027920	chr8:117983619-118079816	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv539732	chr8:117983619-118079816	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv6360	chr8:118005370-118030914	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv527876	chr8:118012265-118037316	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6469668	PACS1	trans	cerebellum	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118021600-118022600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr8:118022400-118023000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:118022400-118023200	Enhancers	Lung	lung

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