Variant report

Variant	rs7621511
Chromosome Location	chr3:43279878-43279879
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	chr3:43278548..43281407-chr3:43281885..43284068,3	K562	blood:

Extended variants
information (count: 89 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10865932	0.88[GIH][hapmap];0.93[TSI][hapmap]
rs11129996	0.98[ASN][1000 genomes]
rs12634274	0.81[GIH][hapmap]
rs12715387	1.00[ASN][1000 genomes]
rs12715388	1.00[ASN][1000 genomes]
rs13059783	1.00[ASN][1000 genomes]
rs13060695	1.00[ASN][1000 genomes]
rs13066699	1.00[ASN][1000 genomes]
rs13074235	0.96[ASN][1000 genomes]
rs13085652	1.00[ASN][1000 genomes]
rs1316296	0.98[EUR][1000 genomes]
rs1316297	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1320156	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1320158	1.00[ASN][1000 genomes]
rs13320571	0.88[GIH][hapmap];0.93[TSI][hapmap]
rs1573931	0.98[ASN][1000 genomes]
rs1588027	0.82[GIH][hapmap]
rs17075317	0.92[CHB][hapmap];0.95[CHD][hapmap];0.85[JPT][hapmap]
rs17075335	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs17075342	0.98[EUR][1000 genomes]
rs17075378	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17075381	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17075398	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17075597	0.88[GIH][hapmap];0.85[TSI][hapmap]
rs1814902	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2372352	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2372354	0.97[ASN][1000 genomes]
rs2372355	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2372356	1.00[ASN][1000 genomes]
rs2888295	1.00[ASN][1000 genomes]
rs2888296	1.00[ASN][1000 genomes]
rs4016130	0.95[ASN][1000 genomes]
rs4260403	0.98[ASN][1000 genomes]
rs4404425	1.00[ASN][1000 genomes]
rs4419357	0.94[ASN][1000 genomes]
rs4444688	1.00[ASN][1000 genomes]
rs4510359	0.82[GIH][hapmap]
rs4585168	0.98[EUR][1000 genomes]
rs4637262	1.00[ASN][1000 genomes]
rs4682675	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4682677	0.81[EUR][1000 genomes]
rs4682685	0.82[GIH][hapmap]
rs4682872	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4682874	0.90[EUR][1000 genomes]
rs4682875	0.91[EUR][1000 genomes]
rs4682876	0.89[EUR][1000 genomes]
rs4682879	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4683363	0.94[ASN][1000 genomes]
rs4683364	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4683366	1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs4683367	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4683369	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6442144	0.97[ASN][1000 genomes]
rs6762503	0.98[ASN][1000 genomes]
rs6781696	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6783741	0.82[GIH][hapmap]
rs6798619	0.92[ASN][1000 genomes]
rs6800983	0.82[GIH][hapmap]
rs6803929	0.88[GIH][hapmap];0.85[TSI][hapmap]
rs6805075	0.94[ASN][1000 genomes]
rs7611123	0.98[EUR][1000 genomes]
rs7621298	0.85[JPT][hapmap]
rs7627198	1.00[ASN][1000 genomes]
rs7636673	0.95[ASN][1000 genomes]
rs7639584	0.98[ASN][1000 genomes]
rs7639605	0.95[ASN][1000 genomes]
rs9311334	0.94[ASN][1000 genomes]
rs9311335	1.00[ASN][1000 genomes]
rs9311336	1.00[ASN][1000 genomes]
rs9311339	0.82[GIH][hapmap]
rs9681394	0.85[CEU][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.92[TSI][hapmap];0.90[EUR][1000 genomes]
rs9683242	1.00[CEU][hapmap];0.82[JPT][hapmap];0.98[EUR][1000 genomes]
rs977911	0.82[GIH][hapmap]
rs9809273	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9820946	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs9822961	0.98[ASN][1000 genomes]
rs9826102	1.00[ASN][1000 genomes]
rs9826849	1.00[ASN][1000 genomes]
rs9827911	1.00[ASN][1000 genomes]
rs9833793	0.95[ASN][1000 genomes]
rs9852399	0.98[ASN][1000 genomes]
rs9853795	0.94[ASN][1000 genomes]
rs9858012	1.00[CHB][hapmap];0.84[JPT][hapmap];0.94[ASN][1000 genomes]
rs9860007	1.00[ASN][1000 genomes]
rs9860364	0.98[ASN][1000 genomes]
rs9861337	0.98[ASN][1000 genomes]
rs9861529	0.98[ASN][1000 genomes]
rs9875582	0.85[CHB][hapmap];0.95[CHD][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834672	chr3:43132722-43306272	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs7621511	CAPSL	trans	brain	seeQTL
rs7621511	FANK1	trans	brain	seeQTL
rs7621511	CAPS	trans	brain	seeQTL
rs7621511	SLC47A2	trans	brain	seeQTL
rs7621511	SPAG6	trans	brain	seeQTL
rs7621511	IQCG	trans	brain	seeQTL
rs7621511	TEKT1	trans	brain	seeQTL
rs7621511	C1orf194	trans	brain	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43278200-43280800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:43278400-43280200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr3:43278400-43280200	Weak transcription	NHEK	skin
4	chr3:43278400-43284200	Weak transcription	Thymus	Thymus
5	chr3:43278400-43285000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr3:43278600-43280800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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