Variant report

Variant	rs7163424
Chromosome Location	chr15:54870260-54870261
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	chr15:54860759..54864506-chr15:54869181..54871283,4	K562	blood:
2	chr15:54860759..54863640-chr15:54869706..54871283,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10152571	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10468008	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs11071087	0.85[CHB][hapmap]
rs11071088	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11071089	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs11639005	0.81[CHB][hapmap];0.80[JPT][hapmap]
rs11639014	0.85[CHB][hapmap];0.80[JPT][hapmap]
rs12437724	0.84[CEU][hapmap];0.85[CHB][hapmap];0.89[GIH][hapmap];0.80[JPT][hapmap];0.80[TSI][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12438101	0.93[ASN][1000 genomes]
rs12443186	0.85[CHB][hapmap];0.80[JPT][hapmap]
rs12900512	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12908706	0.84[CEU][hapmap];0.85[JPT][hapmap]
rs12909682	0.96[CEU][hapmap];0.85[CHB][hapmap];0.86[CHD][hapmap];0.91[GIH][hapmap];0.90[JPT][hapmap];0.94[MEX][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12914472	0.96[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12916626	0.81[CHB][hapmap]
rs16974753	0.80[CHB][hapmap]
rs16974859	0.95[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs16974861	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1818705	0.88[CEU][hapmap];0.81[CHB][hapmap];0.90[JPT][hapmap]
rs1851001	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1851006	0.82[CHB][hapmap]
rs1851007	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1851008	0.83[CEU][hapmap];0.90[CHB][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2056342	0.88[CEU][hapmap];0.81[CHB][hapmap];0.90[JPT][hapmap]
rs2553218	0.85[CEU][hapmap]
rs2553222	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2553223	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2553227	0.92[CEU][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2681954	0.92[CEU][hapmap];0.93[GIH][hapmap];0.88[TSI][hapmap]
rs2681956	0.86[CEU][hapmap]
rs35584128	0.86[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs589611	0.81[CHB][hapmap];0.84[MEX][hapmap]
rs6493690	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs746321	0.92[CEU][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8023595	0.88[CEU][hapmap];0.90[JPT][hapmap]
rs8023918	0.88[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap]
rs8028630	0.92[CEU][hapmap];0.93[GIH][hapmap];0.94[MEX][hapmap];0.97[TSI][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8040048	0.90[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs8040060	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs8040619	0.86[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs8040774	1.00[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.96[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs8041282	0.84[CEU][hapmap];0.81[CHB][hapmap];0.83[CHD][hapmap];0.85[JPT][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8041576	0.92[ASN][1000 genomes]
rs8042341	0.92[CEU][hapmap];0.85[CHB][hapmap];0.85[JPT][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9302181	0.81[CHB][hapmap];0.80[JPT][hapmap]
rs939390	0.84[AMR][1000 genomes];0.85[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	nsv817539	chr15:54132584-55095235	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1038660	chr15:54756184-55039913	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	nsv904236	chr15:54820897-54912439	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1039548	chr15:54856965-54914519	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7163424	UNC13C	Cis_1M	lymphoblastoid	RTeQTL
rs7163424	KIAA1370	cis	parietal	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:54867600-54871200	Enhancers	Fetal Lung	lung
2	chr15:54870000-54870800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr15:54870000-54879800	Weak transcription	Aorta	Aorta
4	chr15:54870200-54870600	Weak transcription	Fetal Muscle Leg	muscle

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