Variant report

Variant	rs9321085
Chromosome Location	chr6:127735361-127735362
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs13218061	0.85[CHB][hapmap]
rs2144742	0.85[CHB][hapmap]
rs2144743	0.84[CHB][hapmap]
rs2180341	0.84[CHB][hapmap]
rs2326567	0.84[CHB][hapmap]
rs3798852	0.85[CHB][hapmap]
rs3798853	0.84[CHB][hapmap]
rs3798857	0.85[CHB][hapmap]
rs4285343	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4308584	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4487601	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4555941	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4897214	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6569479	0.84[CHB][hapmap]
rs6569487	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6569488	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6912006	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6912196	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6912552	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6912750	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6914131	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6919082	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6919277	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6924274	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6934242	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6937287	0.84[CHB][hapmap]
rs6940199	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7453272	0.84[CHB][hapmap]
rs7751865	0.82[CEU][hapmap];0.85[CHB][hapmap]
rs7756336	0.85[CHB][hapmap]
rs7756880	0.84[CHB][hapmap]
rs7756884	0.84[CHB][hapmap]
rs7760748	0.84[CHB][hapmap]
rs7762624	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7768435	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7769165	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7776136	0.84[CHB][hapmap]
rs9321076	0.85[CHB][hapmap]
rs9321081	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9321082	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9321083	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9321084	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9375492	0.84[CHB][hapmap]
rs9375508	0.87[AMR][1000 genomes]
rs9385422	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9385424	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9388568	0.85[CHB][hapmap]
rs9398838	0.84[CHB][hapmap]
rs9398840	0.84[CHB][hapmap]
rs9398842	0.85[CHB][hapmap]
rs9401950	0.85[CHB][hapmap]
rs9401953	0.84[CHB][hapmap]
rs9401958	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9401959	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9401960	0.93[AMR][1000 genomes]
rs9491775	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9491781	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[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	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
rs9321085	ECHDC1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:127734600-127735400	Enhancers	Fetal Muscle Leg	muscle
2	chr6:127734800-127735400	Enhancers	NHEK	skin
3	chr6:127734800-127735800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr6:127734800-127737800	Weak transcription	K562	blood
5	chr6:127734800-127741800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr6:127735200-127735400	Enhancers	HSMMtube	muscle

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