Variant report

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10151495	0.81[YRI][hapmap]
rs1040612	0.93[JPT][hapmap];0.94[MEX][hapmap];0.90[MKK][hapmap];0.82[TSI][hapmap]
rs10498515	0.86[JPT][hapmap];0.83[MEX][hapmap]
rs11158546	0.81[AMR][1000 genomes]
rs12589307	0.85[JPT][hapmap]
rs12589322	0.86[JPT][hapmap]
rs12894807	0.84[CEU][hapmap]
rs2038270	0.86[JPT][hapmap]
rs2038273	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2123461	0.86[JPT][hapmap]
rs4899142	0.87[ASN][1000 genomes]
rs4902295	0.93[JPT][hapmap];0.94[MEX][hapmap];0.87[MKK][hapmap];0.82[TSI][hapmap]
rs4902296	0.91[CHB][hapmap];0.92[JPT][hapmap]
rs4902297	0.93[JPT][hapmap];0.94[MEX][hapmap];0.92[MKK][hapmap];0.82[TSI][hapmap]
rs4902304	1.00[MEX][hapmap];0.81[MKK][hapmap]
rs7148289	0.93[JPT][hapmap];0.94[MEX][hapmap];0.87[MKK][hapmap];0.82[TSI][hapmap]
rs7159809	0.86[JPT][hapmap]
rs761547	0.93[JPT][hapmap];0.82[YRI][hapmap];0.81[AMR][1000 genomes]
rs8007257	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs8017407	0.86[JPT][hapmap]
rs926802	0.86[JPT][hapmap];0.89[MEX][hapmap]
rs9671381	0.86[JPT][hapmap]
rs971736	0.81[YRI][hapmap]

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	nsv1049097	chr14:65027753-65202018	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2092718	PLEKHG3	cis	multi-tissue	Pritchard

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65127600-65139800	Weak transcription	Esophagus	oesophagus
2	chr14:65128400-65131400	Enhancers	HSMM	muscle
3	chr14:65128600-65132000	Weak transcription	Osteobl	bone
4	chr14:65128600-65133200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr14:65129600-65131400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr14:65130200-65135800	Weak transcription	A549	lung
7	chr14:65130400-65133400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr14:65130400-65133400	Weak transcription	Duodenum Mucosa	Duodenum
9	chr14:65130400-65138600	Weak transcription	HMEC	breast
10	chr14:65130400-65139800	Weak transcription	Fetal Muscle Leg	muscle
11	chr14:65130600-65139600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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