Variant report

Variant	rs16879659
Chromosome Location	chr8:110504218-110504219
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	chr8:110502694..110504947-chr8:110505259..110508186,2	K562	blood:
2	chr8:110504163..110506389-chr8:110506692..110509341,2	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10091665	1.00[CHB][hapmap]
rs10441509	1.00[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11987659	1.00[CHB][hapmap]
rs11997273	1.00[MEX][hapmap]
rs16879306	1.00[MEX][hapmap]
rs16879653	0.86[ASW][hapmap];1.00[CHB][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs16879674	1.00[EUR][1000 genomes]
rs16879680	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs16879693	1.00[EUR][1000 genomes]
rs16879696	1.00[EUR][1000 genomes]
rs16879730	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs16918465	1.00[CHB][hapmap];0.88[GIH][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs1824191	1.00[EUR][1000 genomes]
rs2124979	1.00[EUR][1000 genomes]
rs56106062	1.00[EUR][1000 genomes]
rs56810186	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57080527	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57175707	1.00[EUR][1000 genomes]
rs57556233	1.00[EUR][1000 genomes]
rs57608746	1.00[EUR][1000 genomes]
rs58602890	1.00[EUR][1000 genomes]
rs60917031	1.00[EUR][1000 genomes]
rs61247948	1.00[EUR][1000 genomes]
rs73700614	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73700615	1.00[EUR][1000 genomes]
rs73700627	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73700631	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73704014	1.00[EUR][1000 genomes]
rs73704021	1.00[EUR][1000 genomes]
rs73704027	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73704033	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73704041	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73704044	0.96[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7828841	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7843815	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9297428	1.00[CHB][hapmap];0.92[LWK][hapmap];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891281	chr8:110450092-110558622	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs16879659	PKHD1L1	cis	multi-tissue	Pritchard
rs16879659	PKHD1L1	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110503800-110504400	Active TSS	A549	lung
2	chr8:110504000-110504400	Active TSS	K562	blood
3	chr8:110504200-110504600	Enhancers	Muscle Satellite Cultured Cells	--

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