Variant report

Variant	rs6563574
Chromosome Location	chr13:38508150-38508151
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	chr13:38503691..38505840-chr13:38507078..38509427,2	K562	blood:
2	chr13:38498164..38500291-chr13:38507345..38509596,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs12429858	0.84[EUR][1000 genomes]
rs1337605	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1337607	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1415599	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1415628	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1556781	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2210979	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2485286	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2485483	0.81[EUR][1000 genomes]
rs34544559	0.85[EUR][1000 genomes]
rs4943547	0.82[ASN][1000 genomes]
rs4943548	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4943551	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6563572	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6563573	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7322764	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7327323	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7336052	0.84[EUR][1000 genomes]
rs7992543	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7994671	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7994826	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs817729	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9315526	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs945858	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs945859	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9548093	0.83[EUR][1000 genomes]
rs9548104	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9548107	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9548108	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9548109	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9548115	0.84[ASN][1000 genomes]
rs9576402	0.83[EUR][1000 genomes]
rs9576405	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	nsv915901	chr13:38199035-39032633	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv899996	chr13:38459224-38577056	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv899997	chr13:38480878-38518459	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv899998	chr13:38480878-38582178	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6563574	MRPS31	cis	cerebellum	SCAN
rs6563574	C13orf38	cis	parietal	SCAN
rs6563574	ALG5	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38500200-38508400	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr13:38500800-38508400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr13:38505800-38509400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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