Variant report

Variant	rs73789248
Chromosome Location	chr5:112270261-112270262
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:112253344..112255730-chr5:112269581..112271953,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs56183614	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56275273	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61431998	1.00[AMR][1000 genomes]
rs728345	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73789250	1.00[AMR][1000 genomes]
rs73789265	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73791451	1.00[AMR][1000 genomes]
rs73791482	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029271	chr5:112113308-112325943	Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv599394	chr5:112185491-112446323	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1019756	chr5:112242315-112325943	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	esv2763866	chr5:112254282-112284223	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112258400-112287400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:112266000-112270800	Weak transcription	Placenta	Placenta
3	chr5:112267600-112270400	Weak transcription	K562	blood
4	chr5:112268800-112270600	Enhancers	Muscle Satellite Cultured Cells	--
5	chr5:112268800-112270800	Enhancers	NHLF	lung
6	chr5:112268800-112271800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr5:112269000-112270400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:112269000-112270600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr5:112269200-112270600	Enhancers	Osteobl	bone
10	chr5:112269200-112270800	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr5:112269600-112270400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr5:112269800-112270600	Enhancers	Primary B cells from peripheral blood	blood
13	chr5:112269800-112270800	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr5:112270000-112270400	Enhancers	Primary B cells from cord blood	blood
15	chr5:112270000-112270400	Flanking Active TSS	NHDF-Ad	bronchial
16	chr5:112270000-112270600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr5:112270200-112270400	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr5:112270200-112270400	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr5:112270200-112270600	Enhancers	HUVEC	blood vessel
20	chr5:112270200-112271000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr5:112270200-112271800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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