Variant report

Variant	rs2066600
Chromosome Location	chr13:50728751-50728752
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:50727152..50729552-chr13:50729761..50732291,3	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1622458	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2066581	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2066593	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2066603	0.89[EUR][1000 genomes]
rs2740509	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2760911	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7318151	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9535414	0.86[EUR][1000 genomes]
rs9535416	0.86[EUR][1000 genomes]
rs9740075	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035151	chr13:50513535-51167850	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1254 gene(s)	inside rSNPs	diseases
2	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
4	esv2752608	chr13:50550099-51054499	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1249 gene(s)	inside rSNPs	diseases
5	nsv832608	chr13:50678628-50888413	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
6	nsv1041501	chr13:50683189-50795195	Flanking Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
7	nsv900076	chr13:50710579-50912578	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2066600	DLEU1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50724400-50729000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr13:50724400-50729400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr13:50724400-50730200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr13:50724400-50730400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr13:50724400-50733400	Weak transcription	Psoas Muscle	Psoas
6	chr13:50726800-50730000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr13:50726800-50734600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr13:50726800-50735000	Weak transcription	NHLF	lung
9	chr13:50727000-50730200	Weak transcription	NHDF-Ad	bronchial
10	chr13:50727000-50730600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr13:50727000-50730600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr13:50727000-50732400	Weak transcription	Primary B cells from cord blood	blood
13	chr13:50727400-50729800	Weak transcription	HepG2	liver
14	chr13:50727600-50730200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr13:50727800-50730200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr13:50727800-50730600	Weak transcription	HSMM	muscle
17	chr13:50728000-50730000	Weak transcription	Osteobl	bone
18	chr13:50728000-50732600	Weak transcription	Primary B cells from peripheral blood	blood
19	chr13:50728200-50730000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr13:50728200-50730400	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr13:50728200-50731200	Enhancers	Dnd41	blood
22	chr13:50728400-50728800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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