Variant report

Variant	rs9321083
Chromosome Location	chr6:127728386-127728387
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs13218061	0.81[JPT][hapmap]
rs2144742	0.81[JPT][hapmap]
rs2180341	0.81[JPT][hapmap]
rs2326567	0.81[JPT][hapmap]
rs3798852	0.81[JPT][hapmap]
rs3798853	0.81[JPT][hapmap]
rs3798857	0.81[JPT][hapmap]
rs4285343	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4308584	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4487601	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4555941	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4897207	0.81[JPT][hapmap]
rs4897214	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6569479	0.81[JPT][hapmap]
rs6569487	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6569488	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6912006	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6912196	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6912552	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6912750	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6914131	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6919082	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6919277	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6924274	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6934242	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6937287	0.81[JPT][hapmap]
rs6940199	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7453272	0.81[JPT][hapmap]
rs7751865	0.82[CEU][hapmap];0.81[JPT][hapmap]
rs7756336	0.81[JPT][hapmap]
rs7756884	0.81[JPT][hapmap]
rs7760748	0.85[JPT][hapmap]
rs7762624	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7768435	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7769165	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7776136	0.81[JPT][hapmap]
rs9321076	0.81[JPT][hapmap]
rs9321081	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9321082	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9321084	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9321085	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9375492	0.84[CHB][hapmap];0.87[JPT][hapmap]
rs9375508	0.84[AMR][1000 genomes]
rs9385422	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9385424	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9388568	0.81[JPT][hapmap]
rs9398838	0.81[JPT][hapmap]
rs9398840	0.81[JPT][hapmap]
rs9398842	0.81[JPT][hapmap]
rs9401950	0.81[JPT][hapmap]
rs9401953	0.81[JPT][hapmap]
rs9401958	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9401959	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9401960	0.84[AMR][1000 genomes]
rs9491775	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9491781	0.87[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
rs9321083	ECHDC1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:127720400-127729200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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