Variant report

Variant	rs2553222
Chromosome Location	chr15:54869748-54869749
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	chr15:54860759..54864506-chr15:54869181..54871283,4	K562	blood:
2	chr15:54860759..54863640-chr15:54869706..54871283,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10152571	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10468008	0.85[JPT][hapmap]
rs11071087	0.81[CHB][hapmap]
rs11071088	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11071089	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs11639005	0.80[JPT][hapmap]
rs11639014	0.81[CHB][hapmap];0.80[JPT][hapmap]
rs12437724	0.84[CEU][hapmap];0.81[CHB][hapmap];0.80[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12438101	0.91[ASN][1000 genomes]
rs12443186	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs12900512	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12908706	0.85[CEU][hapmap];0.85[JPT][hapmap]
rs12909682	0.96[CEU][hapmap];0.81[CHB][hapmap];0.90[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12914472	0.96[CEU][hapmap];0.82[CHB][hapmap];0.90[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16974859	0.95[CHB][hapmap];0.95[JPT][hapmap];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16974861	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1818705	0.88[CEU][hapmap];0.90[JPT][hapmap]
rs1851001	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1851006	0.82[CHB][hapmap]
rs1851007	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1851008	0.84[CEU][hapmap];0.86[CHB][hapmap];0.80[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2056342	0.88[CEU][hapmap];0.91[JPT][hapmap]
rs2553218	0.85[CEU][hapmap]
rs2553223	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2553227	0.93[CEU][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2681954	0.92[CEU][hapmap]
rs2681956	0.87[CEU][hapmap]
rs35584128	0.90[ASN][1000 genomes]
rs6493690	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7163424	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]
rs746321	0.93[CEU][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8023595	0.88[CEU][hapmap];0.90[JPT][hapmap]
rs8023918	0.88[CEU][hapmap];0.81[CHB][hapmap];0.90[JPT][hapmap]
rs8028630	0.92[CEU][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8040048	0.90[ASN][1000 genomes]
rs8040060	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs8040619	0.90[ASN][1000 genomes]
rs8040774	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs8041282	0.84[CEU][hapmap];0.85[JPT][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8041576	0.90[ASN][1000 genomes]
rs8042341	0.92[CEU][hapmap];0.81[CHB][hapmap];0.85[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9302181	0.80[JPT][hapmap]
rs939390	0.84[AMR][1000 genomes];0.87[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2553222	UNC13C	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:54867600-54871200	Enhancers	Fetal Lung	lung
2	chr15:54868800-54870000	Enhancers	Adipose Nuclei	Adipose
3	chr15:54869600-54870000	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr15:54869600-54870000	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr15:54869600-54870000	Enhancers	Aorta	Aorta
6	chr15:54869600-54870000	Enhancers	Fetal Muscle Trunk	muscle
7	chr15:54869600-54870000	Enhancers	Placenta Amnion	Placenta Amnion
8	chr15:54869600-54870200	Enhancers	Fetal Muscle Leg	muscle

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