Variant report

Variant	rs9868348
Chromosome Location	chr3:134607243-134607244
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:134606424..134609359-chr3:134641100..134643520,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10935140	0.84[ASW][hapmap];0.87[JPT][hapmap];0.92[LWK][hapmap];0.83[YRI][hapmap];0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11706968	0.93[JPT][hapmap]
rs12695618	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1399707	0.93[JPT][hapmap]
rs1399710	0.96[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1515359	0.87[JPT][hapmap]
rs1515364	0.80[JPT][hapmap];0.83[YRI][hapmap];0.84[AFR][1000 genomes]
rs1515367	0.89[CHD][hapmap];0.87[JPT][hapmap]
rs2895696	0.82[JPT][hapmap]
rs4955458	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4955508	0.82[JPT][hapmap]
rs6439535	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6762621	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6779978	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6786490	0.84[ASW][hapmap];0.87[JPT][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6789763	0.87[JPT][hapmap]
rs7639520	0.87[JPT][hapmap]
rs7639843	0.84[ASW][hapmap];0.87[JPT][hapmap];0.92[LWK][hapmap];0.83[YRI][hapmap];0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs868130	0.82[JPT][hapmap]
rs884381	0.82[JPT][hapmap]
rs938382	0.82[JPT][hapmap]
rs9814692	0.80[JPT][hapmap]
rs9819889	0.82[JPT][hapmap]
rs9839573	0.87[JPT][hapmap];0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9846488	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9851596	0.82[JPT][hapmap]
rs9874291	0.91[JPT][hapmap];0.85[YRI][hapmap];0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9874607	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009634	chr3:134543259-134820208	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv536720	chr3:134543259-134820208	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1000277	chr3:134546080-134970837	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9868348	EPHB1	cis	parietal	SCAN
rs9868348	KY	cis	cerebellum	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134599800-134613400	Weak transcription	Fetal Brain Female	brain
2	chr3:134605000-134609800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr3:134606800-134607800	Enhancers	GM12878-XiMat	blood

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