Variant report

Variant	rs73480233
Chromosome Location	chr13:49346269-49346270
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:49344498..49346343-chr13:49548446..49550486,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000102531	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1025235	1.00[AMR][1000 genomes]
rs1323554	1.00[AMR][1000 genomes]
rs17072194	1.00[AMR][1000 genomes]
rs56797165	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57032491	1.00[AMR][1000 genomes]
rs58142652	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59725117	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73480204	1.00[AMR][1000 genomes]
rs73480220	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73480223	1.00[AMR][1000 genomes]
rs73480245	1.00[AMR][1000 genomes]
rs73480249	1.00[AMR][1000 genomes]
rs73480253	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73480258	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73482287	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73482293	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73482300	1.00[AMR][1000 genomes]
rs73482301	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73484304	1.00[AMR][1000 genomes]
rs73484316	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7994259	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS 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 target site	42 gene(s)	inside rSNPs	diseases
2	esv2758327	chr13:49283983-49472517	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv2759936	chr13:49283983-49472517	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1036621	chr13:49310529-49346405	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1049066	chr13:49316146-49346405	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1044086	chr13:49331713-49350131	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49344000-49349000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr13:49344400-49347400	Weak transcription	Hela-S3	cervix
3	chr13:49345800-49348000	Enhancers	Dnd41	blood
4	chr13:49346000-49346400	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr13:49346000-49346400	Enhancers	Right Ventricle	heart
6	chr13:49346000-49346800	Enhancers	Left Ventricle	heart
7	chr13:49346000-49346800	Enhancers	Right Atrium	heart
8	chr13:49346000-49348400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr13:49346200-49346600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr13:49346200-49346800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr13:49346200-49346800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr13:49346200-49346800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr13:49346200-49346800	Enhancers	Fetal Heart	heart
14	chr13:49346200-49347600	Enhancers	Primary hematopoietic stem cells short term culture	blood

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