Variant report

Variant	rs7002456
Chromosome Location	chr8:125349177-125349178
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125342566..125344974-chr8:125348992..125350712,2	K562	blood:
2	chr8:125348366..125351032-chr8:125353467..125355350,2	K562	blood:
3	chr8:125347174..125349341-chr8:125383530..125386281,3	MCF-7	breast:
4	chr8:125349010..125350825-chr8:125354672..125357110,2	MCF-7	breast:
5	chr8:125338106..125341622-chr8:125346657..125350721,4	MCF-7	breast:
6	chr8:125348366..125351032-chr8:125352603..125355350,3	K562	blood:

Variant related genes	Relation type
ENSG00000164983	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10110968	1.00[CEU][hapmap];0.81[LWK][hapmap];0.86[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10464864	1.00[CEU][hapmap];0.83[GIH][hapmap];0.97[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12674575	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12674701	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4257990	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4286934	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs4314633	0.86[EUR][1000 genomes]
rs4317549	1.00[GIH][hapmap];0.94[LWK][hapmap];0.89[MEX][hapmap];0.95[MKK][hapmap];0.86[EUR][1000 genomes]
rs4421336	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4506195	0.84[EUR][1000 genomes]
rs4512364	0.87[EUR][1000 genomes]
rs4527851	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4581036	0.84[EUR][1000 genomes]
rs4590425	0.86[EUR][1000 genomes]
rs4639495	0.84[EUR][1000 genomes]
rs4871486	0.81[EUR][1000 genomes]
rs4871488	0.87[EUR][1000 genomes]
rs4871489	0.89[MEX][hapmap]
rs6470241	0.84[EUR][1000 genomes]
rs6984232	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6985308	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6991465	0.81[EUR][1000 genomes]
rs6993858	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6997326	1.00[CEU][hapmap];0.95[MKK][hapmap];0.91[TSI][hapmap];0.81[EUR][1000 genomes]
rs7010910	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7386298	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7387520	0.80[EUR][1000 genomes]
rs7819902	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7832694	0.81[EUR][1000 genomes]
rs7835851	1.00[GIH][hapmap];0.86[EUR][1000 genomes]
rs7841552	0.82[AFR][1000 genomes];0.83[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	esv2762769	chr8:125167256-125480574	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv521356	chr8:125309055-125404763	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1034768	chr8:125323011-125481733	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv527751	chr8:125338216-125431030	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7002456	STXBP4	trans	cerebellum	SCAN
rs7002456	TRMT12	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125332000-125352800	Weak transcription	Fetal Lung	lung
2	chr8:125332400-125351000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr8:125334200-125364000	Weak transcription	HUVEC	blood vessel
4	chr8:125346200-125350600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr8:125346400-125354000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr8:125346400-125361000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr8:125346400-125368200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:125346600-125352600	Weak transcription	Fetal Heart	heart
9	chr8:125347200-125356400	Weak transcription	HSMMtube	muscle
10	chr8:125347400-125349200	Enhancers	A549	lung

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