Variant report

No data

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

No.	Distal block	Cell Line	Cell type
1	chr14:64808415..64811842-chr14:64942853..64946477,3	K562	blood:
2	chr14:64811061..64811573-chr14:65103088..65103614,2	K562	blood:
3	chr14:64810600..64811544-chr14:64945095..64945921,2	MCF-7	breast:
4	chr14:64804156..64807340-chr14:64808252..64812511,7	MCF-7	breast:
5	chr14:64810341..64812105-chr14:64976610..64978865,2	MCF-7	breast:
6	chr14:64803478..64807649-chr14:64810218..64814066,7	MCF-7	breast:
7	chr14:64810535..64811514-chr14:65103240..65104065,3	MCF-7	breast:
8	chr14:64810311..64815696-chr14:64852502..64857226,7	MCF-7	breast:
9	chr14:64809378..64811742-chr14:64968642..64972431,4	MCF-7	breast:
10	chr14:64810615..64811473-chr14:64895959..64896863,2	MCF-7	breast:
11	chr14:64810629..64811483-chr14:64896711..64897466,4	K562	blood:
12	chr14:64810659..64811466-chr14:64977783..64978461,3	MCF-7	breast:
13	chr14:64809574..64812301-chr14:64815587..64817784,2	MCF-7	breast:

No data

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

rs_ID	r²[population]
rs12434608	0.81[EUR][1000 genomes]
rs1256093	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1256095	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1256097	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1256099	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1256100	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1256101	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1256102	0.90[EUR][1000 genomes]
rs1256107	0.89[EUR][1000 genomes]
rs1256108	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1256109	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1256111	0.89[EUR][1000 genomes]
rs1256112	0.98[ASN][1000 genomes]
rs1262246	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1270057	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12886138	0.85[ASN][1000 genomes]
rs12889097	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12894546	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3020445	0.83[ASN][1000 genomes]
rs35020344	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs36016358	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4243628	0.82[AMR][1000 genomes];0.83[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	nsv902019	chr14:64395569-64882380	Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1256113	MTHFD1	Cis_1M	lymphoblastoid	RTeQTL
rs1256113	SYNE2	Cis_1M	lymphoblastoid	RTeQTL
rs1256113	ESR2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64806200-64819200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr14:64807600-64827400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:64810800-64811400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr14:64811200-64811400	Enhancers	Fetal Thymus	thymus
5	chr14:64811200-64814800	Weak transcription	GM12878-XiMat	blood

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