Variant report

Variant	rs12215298
Chromosome Location	chr6:127676833-127676834
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:127676323-127676997	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
YWHAZP4	TF binding region

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1073931	0.82[EUR][1000 genomes]
rs1073932	0.82[EUR][1000 genomes]
rs11154395	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11154396	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11154397	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11154398	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11961994	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12199451	0.81[EUR][1000 genomes]
rs12212752	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12529077	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13192350	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13215850	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1543432	0.81[EUR][1000 genomes]
rs1964130	0.82[EUR][1000 genomes]
rs2057224	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs3756993	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3798859	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4448121	0.81[EUR][1000 genomes]
rs4472373	0.81[EUR][1000 genomes]
rs4486042	0.81[EUR][1000 genomes]
rs6569486	0.81[EUR][1000 genomes]
rs6683	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs6900074	0.82[EUR][1000 genomes]
rs6904630	0.81[EUR][1000 genomes]
rs6913424	0.81[EUR][1000 genomes]
rs6916990	0.81[EUR][1000 genomes]
rs6933893	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7745944	0.81[EUR][1000 genomes]
rs7751865	0.82[EUR][1000 genomes]
rs7752238	0.80[EUR][1000 genomes]
rs7753913	0.81[EUR][1000 genomes]
rs7756880	0.82[EUR][1000 genomes]
rs7756884	0.82[EUR][1000 genomes]
rs7760748	0.82[EUR][1000 genomes]
rs7766942	0.82[EUR][1000 genomes]
rs7771923	0.81[EUR][1000 genomes]
rs7773484	0.81[EUR][1000 genomes]
rs7775667	0.81[EUR][1000 genomes]
rs9375503	0.82[EUR][1000 genomes]
rs9388568	0.82[EUR][1000 genomes]
rs9398839	0.80[EUR][1000 genomes]
rs9398840	0.81[EUR][1000 genomes]
rs9398841	0.80[EUR][1000 genomes]
rs9398842	0.82[EUR][1000 genomes]
rs9401951	0.81[EUR][1000 genomes]
rs9401952	0.82[EUR][1000 genomes]
rs9401953	0.82[EUR][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
rs12215298	ECHDC1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:9 , 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	chr6:127666200-127687000	Weak transcription	HSMM	muscle
4	chr6:127672600-127687000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:127675200-127678800	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr6:127675200-127679200	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr6:127676200-127677000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr6:127676600-127678400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:127676800-127677000	ZNF genes & repeats	Right Atrium	heart

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