Variant report

Variant	rs2505475
Chromosome Location	chr10:26053758-26053759
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10218959	0.80[ASN][1000 genomes]
rs11014744	0.81[ASN][1000 genomes]
rs11014745	0.80[ASN][1000 genomes]
rs11014746	0.80[ASN][1000 genomes]
rs12241358	0.80[ASN][1000 genomes]
rs12248775	0.80[ASN][1000 genomes]
rs12258824	0.80[ASN][1000 genomes]
rs12260808	0.80[ASN][1000 genomes]
rs12261856	0.80[ASN][1000 genomes]
rs12263936	0.85[ASN][1000 genomes]
rs13377122	0.80[ASN][1000 genomes]
rs16926353	0.80[ASN][1000 genomes]
rs2437405	0.85[ASN][1000 genomes]
rs2437408	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2437409	0.85[ASN][1000 genomes]
rs2442833	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2442839	0.85[ASN][1000 genomes]
rs2442842	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2442843	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2442851	0.81[ASN][1000 genomes]
rs2505466	0.81[ASN][1000 genomes]
rs2505467	0.81[ASN][1000 genomes]
rs2505469	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2505477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2505478	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2505484	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2505498	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3099854	0.81[ASN][1000 genomes]
rs3099855	0.91[ASN][1000 genomes]
rs57317460	0.80[ASN][1000 genomes]
rs7070912	0.80[ASN][1000 genomes]
rs7089251	0.80[ASN][1000 genomes]
rs7093719	0.80[ASN][1000 genomes]
rs7100717	0.85[ASN][1000 genomes]

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	nsv894974	chr10:26028530-26322783	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2505475	FKRP	trans	parietal	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:26043200-26057400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr10:26047600-26054400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr10:26051000-26055600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr10:26053200-26054000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr10:26053400-26055000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr10:26053400-26055400	Enhancers	H1 Cell Line	embryonic stem cell
7	chr10:26053600-26053800	Enhancers	K562	blood
8	chr10:26053600-26055000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr10:26053600-26055000	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr10:26053600-26055200	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr10:26053600-26055400	Enhancers	HUES64 Cell Line	embryonic stem cell

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