Variant report

Variant	rs2068496
Chromosome Location	chr10:23040878-23040879
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:23030010..23032261-chr10:23040421..23043665,3	K562	blood:
2	chr10:23016693..23018672-chr10:23040807..23043389,2	K562	blood:
3	chr10:23039009..23041955-chr10:23046349..23048617,2	MCF-7	breast:
4	chr10:23030110..23031615-chr10:23040326..23042788,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11013110	0.96[CEU][hapmap];0.82[MEX][hapmap];0.93[TSI][hapmap];0.90[EUR][1000 genomes]
rs11013113	0.81[EUR][1000 genomes]
rs11592427	0.93[EUR][1000 genomes]
rs12259159	0.88[EUR][1000 genomes]
rs1891878	0.95[EUR][1000 genomes]
rs2364738	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35027263	0.82[EUR][1000 genomes]
rs6482229	0.94[YRI][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6482232	0.85[EUR][1000 genomes]
rs6482233	0.93[EUR][1000 genomes]
rs6482234	0.91[EUR][1000 genomes]
rs6482235	0.94[EUR][1000 genomes]
rs6482236	0.91[EUR][1000 genomes]
rs7068999	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7072589	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7073783	0.93[EUR][1000 genomes]
rs7082741	0.93[EUR][1000 genomes]
rs7085322	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7091585	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7091875	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7092404	0.93[EUR][1000 genomes]
rs7094187	0.96[CEU][hapmap];0.98[GIH][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7095020	0.96[CEU][hapmap];0.98[EUR][1000 genomes]
rs7095326	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7097599	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7100792	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs71491932	0.86[EUR][1000 genomes]
rs7894778	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7897908	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7915600	0.93[EUR][1000 genomes]
rs7923171	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831809	chr10:22918101-23069676	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv550210	chr10:23012096-23064702	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv550211	chr10:23020350-23079385	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv550212	chr10:23030282-23086690	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2068496	PIP4K2A	cis	Lymphoblastoid	GTEx

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:23039800-23042000	Weak transcription	HUVEC	blood vessel
2	chr10:23040600-23041000	Enhancers	Fetal Thymus	thymus
3	chr10:23040600-23041000	Enhancers	Ovary	ovary
4	chr10:23040600-23043000	Enhancers	Brain Substantia Nigra	brain
5	chr10:23040800-23041000	Enhancers	Spleen	Spleen

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