Variant report

Variant	rs1673392
Chromosome Location	chr8:110484866-110484867
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:110483442..110487678-chr8:110550408..110553451,5	MCF-7	breast:
2	chr8:110483309..110485365-chr8:110487237..110489170,2	MCF-7	breast:
3	chr8:110484343..110486206-chr8:110487564..110489651,2	K562	blood:

Variant related genes	Relation type
ENSG00000147654	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10111682	0.81[AFR][1000 genomes]
rs1026439	0.95[ASN][1000 genomes]
rs10458302	0.81[AMR][1000 genomes]
rs13262995	0.81[AMR][1000 genomes]
rs13264576	0.81[AMR][1000 genomes]
rs13264587	0.81[AMR][1000 genomes]
rs1457284	0.95[ASN][1000 genomes]
rs1471124	0.96[ASN][1000 genomes]
rs1471125	0.96[ASN][1000 genomes]
rs1563580	0.90[AFR][1000 genomes]
rs1624114	0.92[ASN][1000 genomes]
rs1626759	0.92[ASN][1000 genomes]
rs1627570	0.99[ASN][1000 genomes]
rs1673390	0.96[ASN][1000 genomes]
rs1673393	0.96[ASN][1000 genomes]
rs1673394	0.94[ASN][1000 genomes]
rs1673396	0.96[ASN][1000 genomes]
rs1673397	0.96[ASN][1000 genomes]
rs1673398	0.96[ASN][1000 genomes]
rs1673400	0.95[ASN][1000 genomes]
rs1673401	0.95[ASN][1000 genomes]
rs1673403	0.95[ASN][1000 genomes]
rs1673404	0.91[ASN][1000 genomes]
rs1673405	0.86[ASN][1000 genomes]
rs1673407	0.86[ASN][1000 genomes]
rs1673408	0.86[ASN][1000 genomes]
rs1783142	0.96[ASN][1000 genomes]
rs1783143	0.96[ASN][1000 genomes]
rs1783144	0.95[ASN][1000 genomes]
rs1783145	0.95[ASN][1000 genomes]
rs1783149	0.96[ASN][1000 genomes]
rs1783150	0.99[ASN][1000 genomes]
rs1783152	0.96[ASN][1000 genomes]
rs1783163	0.88[ASN][1000 genomes]
rs1783164	0.91[ASN][1000 genomes]
rs1783165	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2607637	0.98[ASN][1000 genomes]
rs2607638	0.95[ASN][1000 genomes]
rs2607639	0.96[ASN][1000 genomes]
rs2844251	0.95[ASN][1000 genomes]
rs2844252	0.95[ASN][1000 genomes]
rs2844253	0.86[ASN][1000 genomes]
rs4529437	0.81[AFR][1000 genomes]
rs4735134	0.81[AMR][1000 genomes]
rs7011803	0.81[AFR][1000 genomes]
rs7014589	0.81[AMR][1000 genomes]
rs714994	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs714995	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018510	chr8:110403496-110504029	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
2	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
rs1673392	PKHD1L1	cis	Thyroid	GTEx
rs1673392	PKHD1L1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110463200-110492400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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