Variant report

Variant	rs7009169
Chromosome Location	chr8:110192030-110192031
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:110187579..110189456-chr8:110191000..110193987,2	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10087444	0.80[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs10090944	0.92[ASN][1000 genomes]
rs10108349	0.83[ASN][1000 genomes]
rs1458923	0.83[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs1531298	0.82[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs1947629	0.92[ASN][1000 genomes]
rs1993594	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2054257	0.82[ASN][1000 genomes]
rs2125511	0.92[ASN][1000 genomes]
rs2125513	0.88[ASN][1000 genomes]
rs2168964	0.87[ASN][1000 genomes]
rs2926195	0.84[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2926196	0.92[ASN][1000 genomes]
rs2926197	0.92[ASN][1000 genomes]
rs2926208	0.92[ASN][1000 genomes]
rs2926214	0.82[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2926259	0.87[ASN][1000 genomes]
rs2926263	0.87[ASN][1000 genomes]
rs2926265	0.86[ASN][1000 genomes]
rs2926269	0.90[ASN][1000 genomes]
rs2926277	0.90[ASN][1000 genomes]
rs2980589	0.92[ASN][1000 genomes]
rs2980591	0.92[ASN][1000 genomes]
rs2980602	0.91[ASN][1000 genomes]
rs2980606	0.91[ASN][1000 genomes]
rs2980611	0.81[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2980619	0.90[ASN][1000 genomes]
rs2980620	0.90[ASN][1000 genomes]
rs2980621	0.90[ASN][1000 genomes]
rs2980623	0.86[ASN][1000 genomes]
rs2980627	0.87[ASN][1000 genomes]
rs2980628	0.87[ASN][1000 genomes]
rs2980630	0.87[ASN][1000 genomes]
rs2980632	0.87[ASN][1000 genomes]
rs2980636	0.84[ASN][1000 genomes]
rs2980637	0.86[ASN][1000 genomes]
rs4734194	0.92[ASN][1000 genomes]
rs4734195	0.92[ASN][1000 genomes]
rs4734206	0.85[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs4735117	0.92[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs4735119	0.88[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs56247307	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6469235	0.92[ASN][1000 genomes]
rs6469241	0.93[ASN][1000 genomes]
rs6469248	0.82[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs6469249	0.92[ASN][1000 genomes]
rs6996836	0.90[ASN][1000 genomes]
rs7003376	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7003806	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7012304	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7819201	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7839867	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[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	nsv1023204	chr8:110169573-110303085	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1031663	chr8:110177432-110303085	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7009169	PKHD1L1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110186000-110192200	Weak transcription	HSMMtube	muscle
2	chr8:110191400-110237400	Weak transcription	Left Ventricle	heart
3	chr8:110191600-110192200	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr8:110191600-110192200	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr8:110191600-110193000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr8:110191800-110195600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr8:110192000-110192200	Enhancers	GM12878-XiMat	blood
8	chr8:110192000-110193000	Enhancers	Muscle Satellite Cultured Cells	--
9	chr8:110192000-110193000	Enhancers	Osteobl	bone
10	chr8:110192000-110193200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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