Variant report

Variant	rs11750563
Chromosome Location	chr5:124627358-124627359
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10900775	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11747033	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12657560	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13164435	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1439598	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1439599	0.83[ASN][1000 genomes]
rs1439600	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1439601	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1439614	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1444648	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1444649	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1550371	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1550372	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1898913	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2408380	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35598441	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3898799	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4507483	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs751657	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs930415	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs930416	0.95[AMR][1000 genomes];0.88[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	nsv882823	chr5:124569471-124639468	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv1034696	chr5:124616571-124654771	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a
3	esv3361600	chr5:124626989-124628140	Enhancers Weak transcription	n/a	n/a	inside rSNPs	n/a
4	nsv823206	chr5:124627008-124628142	Enhancers Weak transcription	n/a	n/a	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11750563	PHAX	cis	cerebellum	SCAN
rs11750563	SRFBP1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124614400-124631400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:124622400-124628600	Weak transcription	Fetal Brain Male	brain
3	chr5:124624600-124628000	Enhancers	Liver	Liver
4	chr5:124627200-124627400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:124627200-124627600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr5:124627200-124627600	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr5:124627200-124627800	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr5:124627200-124627800	Enhancers	iPS-20b Cell Line	embryonic stem cell

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