Variant report

Variant	rs9491781
Chromosome Location	chr6:127738631-127738632
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs4285343	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4308584	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4487601	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4555941	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4897214	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6569487	0.88[EUR][1000 genomes]
rs6569488	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6912006	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6912196	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6912552	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6912750	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6914131	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6919082	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6919277	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6924274	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6934242	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6940199	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7762624	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7768435	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7769165	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9321081	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9321082	0.86[EUR][1000 genomes]
rs9321083	0.87[EUR][1000 genomes]
rs9321084	0.83[EUR][1000 genomes]
rs9321085	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9385422	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9385424	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9401958	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9401959	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9401960	0.86[AMR][1000 genomes]
rs9491775	0.82[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	esv3430461	chr6:127727308-127754317	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9491781	ECHDC1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:127734800-127741800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr6:127735400-127741200	Weak transcription	HSMMtube	muscle
3	chr6:127736800-127741000	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr6:127736800-127741200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr6:127737800-127740600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr6:127738000-127741800	Weak transcription	K562	blood

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