Variant report

Variant	rs7840000
Chromosome Location	chr8:110112995-110112996
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:110111135..110113678-chr8:110116104..110117999,2	K562	blood:
2	chr8:110106215..110109190-chr8:110112713..110114586,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10086023	0.83[ASN][1000 genomes]
rs10090944	0.83[ASN][1000 genomes]
rs10098145	0.83[ASN][1000 genomes]
rs10505126	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10955505	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11778370	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11785269	0.84[ASN][1000 genomes]
rs12543246	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12544197	0.83[ASN][1000 genomes]
rs12544462	0.86[ASN][1000 genomes]
rs12679311	0.83[ASN][1000 genomes]
rs12680028	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13254233	0.82[ASN][1000 genomes]
rs13269597	0.83[ASN][1000 genomes]
rs16892486	0.86[ASN][1000 genomes]
rs16892496	0.86[ASN][1000 genomes]
rs3134105	0.90[AFR][1000 genomes]
rs34092076	0.84[ASN][1000 genomes]
rs3925087	0.85[ASN][1000 genomes]
rs3925088	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4129682	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4130682	0.85[ASN][1000 genomes]
rs4236801	0.84[ASN][1000 genomes]
rs4236802	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4301422	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4342559	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4446710	0.84[ASN][1000 genomes]
rs4464939	0.85[ASN][1000 genomes]
rs4546626	0.84[ASN][1000 genomes]
rs4734190	0.84[ASN][1000 genomes]
rs4734192	0.83[ASN][1000 genomes]
rs4734193	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4734194	0.81[ASN][1000 genomes]
rs4734195	0.81[ASN][1000 genomes]
rs4735091	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735094	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4735095	0.83[ASN][1000 genomes]
rs5778	0.84[ASN][1000 genomes]
rs6469235	0.83[ASN][1000 genomes]
rs6469241	0.81[ASN][1000 genomes]
rs7821463	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7823804	0.84[ASN][1000 genomes]
rs7828207	0.84[ASN][1000 genomes]
rs7832552	0.85[ASN][1000 genomes]
rs7844643	0.84[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	nsv1022273	chr8:110026712-110146600	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv539715	chr8:110026712-110146600	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7840000	PKHD1L1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110110400-110113600	Enhancers	Fetal Brain Male	brain
2	chr8:110110600-110113000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr8:110110600-110113200	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr8:110110800-110113000	Enhancers	Primary hematopoietic stem cells	blood
5	chr8:110112200-110113000	Enhancers	Stomach Mucosa	stomach
6	chr8:110112200-110113000	Enhancers	Osteobl	bone
7	chr8:110112400-110113400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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