Variant report

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:65135349..65138709-chr14:65145103..65149484,4	MCF-7	breast:
2	chr14:65137982..65138853-chr14:65229263..65230220,2	MCF-7	breast:
3	chr14:64973577..64975906-chr14:65136944..65139422,2	MCF-7	breast:
4	chr14:65128230..65131121-chr14:65136317..65138576,2	K562	blood:
5	chr14:65137892..65138874-chr14:65266647..65267635,2	MCF-7	breast:
6	chr14:65138116..65138837-chr14:65266518..65267321,3	MCF-7	breast:
7	chr14:65138142..65139183-chr14:65231179..65232405,5	MCF-7	breast:
8	chr14:65137874..65140791-chr14:65142432..65144848,2	K562	blood:
9	chr14:65137937..65138882-chr14:65212182..65213063,6	MCF-7	breast:
10	chr14:65137974..65138524-chr14:65212266..65213004,2	MCF-7	breast:
11	chr14:64969252..64972831-chr14:65136872..65138614,3	K562	blood:
12	chr14:65137759..65138752-chr14:65228203..65228779,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000126804	Chromatin interaction
ENSG00000089775	Chromatin interaction

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10873174	0.91[CHB][hapmap]
rs11158554	0.88[ASN][1000 genomes]
rs11158555	0.88[ASN][1000 genomes]
rs11622168	0.91[CHB][hapmap]
rs11848238	0.89[ASN][1000 genomes]
rs12431555	0.88[ASN][1000 genomes]
rs12432551	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12435904	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12436296	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs12884911	0.91[CHB][hapmap]
rs12893758	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17113846	0.95[JPT][hapmap]
rs1950302	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1956418	0.81[ASN][1000 genomes]
rs1956420	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2016351	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3742604	0.91[CHB][hapmap]
rs4902293	0.91[CHB][hapmap]
rs6573560	0.91[CHB][hapmap]
rs7143298	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs733127	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9944101	0.91[CHB][hapmap];0.95[JPT][hapmap]

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	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
2	esv3443734	chr14:65137049-65139247	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1956419	PLEKHG3	cis	multi-tissue	Pritchard

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65127600-65139800	Weak transcription	Esophagus	oesophagus
2	chr14:65130400-65138600	Weak transcription	HMEC	breast
3	chr14:65130400-65139800	Weak transcription	Fetal Muscle Leg	muscle
4	chr14:65130600-65139600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr14:65133400-65139800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:65134000-65138400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr14:65134000-65140200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr14:65135400-65149200	Weak transcription	Aorta	Aorta
9	chr14:65136200-65138400	Weak transcription	Stomach Mucosa	stomach
10	chr14:65136200-65138600	Weak transcription	A549	lung
11	chr14:65137200-65139000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr14:65138200-65138800	Enhancers	Fetal Intestine Small	intestine
13	chr14:65138200-65138800	Enhancers	Fetal Kidney	kidney

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