Variant report

Variant	rs7863426
Chromosome Location	chr9:79029281-79029282
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	chr9:79021966..79023539-chr9:79027726..79029387,2	MCF-7	breast:
2	chr9:79008306..79010986-chr9:79027857..79030537,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135002	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10114296	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10116860	1.00[AMR][1000 genomes]
rs10124464	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10125804	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11144872	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11144874	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11144885	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11144886	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12000283	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12003653	1.00[AMR][1000 genomes]
rs12338735	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12345290	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12346177	1.00[AMR][1000 genomes]
rs12346217	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12346978	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12349438	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28391132	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28435584	1.00[AMR][1000 genomes]
rs28477196	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28591137	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28704710	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28837371	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55841807	1.00[AMR][1000 genomes]
rs55843495	1.00[AMR][1000 genomes]
rs55868826	1.00[AMR][1000 genomes]
rs57699869	1.00[AMR][1000 genomes]
rs61328249	1.00[AMR][1000 genomes]
rs7018821	1.00[AMR][1000 genomes]
rs7022424	1.00[AMR][1000 genomes]
rs7022806	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7022930	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7026641	1.00[AMR][1000 genomes]
rs7030639	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7031173	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7032475	1.00[AMR][1000 genomes]
rs7039907	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7042938	1.00[AMR][1000 genomes]
rs7045064	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73650203	1.00[AMR][1000 genomes]
rs73650204	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73650205	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73650206	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73650208	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73650209	1.00[AMR][1000 genomes]
rs73650210	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73650211	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73650212	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73650217	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73650218	1.00[AMR][1000 genomes]
rs73650220	1.00[AMR][1000 genomes]
rs73652926	1.00[AMR][1000 genomes]
rs73652927	1.00[AMR][1000 genomes]
rs73652930	1.00[AMR][1000 genomes]
rs73652940	1.00[AMR][1000 genomes]
rs73652941	1.00[AMR][1000 genomes]
rs73652942	1.00[AMR][1000 genomes]
rs73652943	1.00[AMR][1000 genomes]
rs73652944	1.00[AMR][1000 genomes]
rs73652945	1.00[AMR][1000 genomes]
rs7867442	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869152	chr9:78742197-79583399	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv931033	chr9:78850330-79366454	Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv893478	chr9:78933874-79101006	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv893479	chr9:78971253-79275226	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	esv3451027	chr9:79021447-79056132	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7863426	SERPINE2	trans	lymphoblastoid	seeQTL
rs7863426	FABP4	trans	brain	seeQTL

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:79027600-79029800	ZNF genes & repeats	GM12878-XiMat	blood
2	chr9:79028000-79029600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr9:79028200-79029600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr9:79029000-79031600	Enhancers	HUVEC	blood vessel
5	chr9:79029200-79031200	Enhancers	NH-A	brain
6	chr9:79029200-79031400	Enhancers	Hela-S3	cervix

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