Variant report

Variant	rs3134314
Chromosome Location	chr8:110672184-110672185
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	chr8:110668165..110670154-chr8:110671469..110674200,2	K562	blood:
2	chr8:110552007..110554133-chr8:110670328..110672322,2	K562	blood:

Variant related genes	Relation type
ENSG00000147654	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10090145	1.00[CEU][hapmap];0.87[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10505131	0.94[JPT][hapmap]
rs10505132	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11774663	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11998387	1.00[CEU][hapmap];0.87[CHB][hapmap];0.94[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13256586	0.89[ASN][1000 genomes]
rs13268243	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1573853	0.95[CEU][hapmap];0.87[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2702	0.83[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs3108829	0.99[ASN][1000 genomes]
rs3108832	0.97[ASN][1000 genomes]
rs3108837	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs3108840	0.96[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs3108853	0.99[ASN][1000 genomes]
rs3108854	0.99[ASN][1000 genomes]
rs3108862	1.00[ASN][1000 genomes]
rs3108865	1.00[ASN][1000 genomes]
rs3108869	0.99[ASN][1000 genomes]
rs3133922	0.87[ASN][1000 genomes]
rs3133926	0.96[ASN][1000 genomes]
rs3133927	0.99[ASN][1000 genomes]
rs3133935	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3133936	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs3133937	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3134317	1.00[ASN][1000 genomes]
rs3134319	1.00[ASN][1000 genomes]
rs3134325	0.99[ASN][1000 genomes]
rs3134331	0.99[ASN][1000 genomes]
rs4367512	0.81[YRI][hapmap]
rs6469275	0.87[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs6985646	0.91[ASN][1000 genomes]
rs7008447	0.87[CHB][hapmap];0.94[JPT][hapmap];0.89[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	esv1849702	chr8:110594148-110683804	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3134314	PKHD1L1	cis	Lymphoblastoid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110670400-110676800	Weak transcription	Fetal Brain Male	brain
2	chr8:110670800-110678200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:110672000-110680200	Weak transcription	Cortex derived primary cultured neurospheres	brain

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