Variant report

Variant	rs7771923
Chromosome Location	chr6:127675774-127675775
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 84 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs1073931	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1073932	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10872312	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12215298	0.81[EUR][1000 genomes]
rs13218061	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1543432	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1964130	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2038378	0.87[EUR][1000 genomes]
rs2057223	0.91[EUR][1000 genomes]
rs2144742	0.90[EUR][1000 genomes]
rs2144743	0.91[EUR][1000 genomes]
rs2180341	0.90[EUR][1000 genomes]
rs2281491	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2326567	0.90[EUR][1000 genomes]
rs3756996	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3798850	0.90[EUR][1000 genomes]
rs3798852	0.90[EUR][1000 genomes]
rs3798857	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4448121	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4472373	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4486042	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4895821	0.85[EUR][1000 genomes]
rs4895822	0.92[EUR][1000 genomes]
rs4895823	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4897207	0.90[EUR][1000 genomes]
rs6569477	0.87[EUR][1000 genomes]
rs6569478	0.90[EUR][1000 genomes]
rs6569479	0.89[EUR][1000 genomes]
rs6569480	0.91[EUR][1000 genomes]
rs6569482	0.91[EUR][1000 genomes]
rs6569483	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6569486	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6900074	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6903878	0.92[EUR][1000 genomes]
rs6904520	0.90[EUR][1000 genomes]
rs6904630	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6906717	0.90[EUR][1000 genomes]
rs6910763	0.91[EUR][1000 genomes]
rs6913424	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6916990	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6930849	0.91[EUR][1000 genomes]
rs6937287	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7449576	0.91[EUR][1000 genomes]
rs7745944	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7751865	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7752238	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7753913	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7756336	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7756880	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7756884	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7760748	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7766942	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7773484	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7774468	0.87[EUR][1000 genomes]
rs7775493	0.88[EUR][1000 genomes]
rs7776136	0.91[EUR][1000 genomes]
rs877661	0.85[EUR][1000 genomes]
rs910720	0.91[EUR][1000 genomes]
rs9285459	0.91[EUR][1000 genomes]
rs9285460	0.92[EUR][1000 genomes]
rs9321073	0.90[EUR][1000 genomes]
rs9321074	0.91[EUR][1000 genomes]
rs9321076	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9321079	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9375499	0.91[EUR][1000 genomes]
rs9375501	0.84[EUR][1000 genomes]
rs9375503	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9385419	0.90[EUR][1000 genomes]
rs9388561	0.91[EUR][1000 genomes]
rs9388568	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9388571	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9398836	0.85[EUR][1000 genomes]
rs9398837	0.91[EUR][1000 genomes]
rs9398838	0.91[EUR][1000 genomes]
rs9398839	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9398840	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9398841	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9398842	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9401950	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9401951	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9401952	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9401953	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv604641	chr6:127657099-127719062	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv965762	chr6:127669294-127698325	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7771923	ECHDC1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:127666000-127679200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:127666000-127704000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr6:127666200-127676800	Weak transcription	Right Atrium	heart
4	chr6:127666200-127687000	Weak transcription	HSMM	muscle
5	chr6:127667600-127676200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:127668800-127675800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr6:127671800-127676000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr6:127672600-127687000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr6:127675200-127678800	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr6:127675200-127679200	Weak transcription	Primary monocytes fromperipheralblood	blood

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