Variant report

Variant	rs11750449
Chromosome Location	chr5:112792864-112792865
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10036298	0.81[EUR][1000 genomes]
rs10040430	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10046057	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1017209	0.83[EUR][1000 genomes]
rs10477495	0.80[EUR][1000 genomes]
rs10478126	0.80[EUR][1000 genomes]
rs11241210	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11241211	0.83[EUR][1000 genomes]
rs11241212	0.84[EUR][1000 genomes]
rs11750488	0.84[AFR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13362066	0.84[EUR][1000 genomes]
rs1820059	0.84[EUR][1000 genomes]
rs1833680	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1833681	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1862315	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1970798	0.84[EUR][1000 genomes]
rs26991	0.81[AMR][1000 genomes]
rs28848005	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3842917	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3906538	0.85[EUR][1000 genomes]
rs3909887	0.85[EUR][1000 genomes]
rs4122547	0.84[EUR][1000 genomes]
rs4132093	0.80[EUR][1000 genomes]
rs4705552	0.84[EUR][1000 genomes]
rs4705823	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4705825	0.84[EUR][1000 genomes]
rs58391392	0.81[EUR][1000 genomes]
rs60265545	0.85[EUR][1000 genomes]
rs6594718	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6594719	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6594720	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6594721	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6594729	0.80[EUR][1000 genomes]
rs6594732	0.80[EUR][1000 genomes]
rs6594733	0.80[EUR][1000 genomes]
rs67915940	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6876448	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6878355	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6880447	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6887816	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6889783	0.85[EUR][1000 genomes]
rs6898425	0.80[EUR][1000 genomes]
rs7701913	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7706796	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7713846	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7717644	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7732310	0.84[EUR][1000 genomes]
rs929774	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9654519	0.84[EUR][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	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11750449	YTHDC2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112786200-112810000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:112788000-112794200	Weak transcription	NHEK	skin
3	chr5:112788000-112808000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:112788200-112807600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr5:112791200-112795200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr5:112792800-112793200	Enhancers	Lung	lung

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