Variant report

Variant	rs73480245
Chromosome Location	chr13:49350206-49350207
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
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	1.00[AMR][1000 genomes]
rs57032491	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58142652	1.00[AMR][1000 genomes]
rs59725117	1.00[AMR][1000 genomes]
rs73480204	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73480220	1.00[AMR][1000 genomes]
rs73480223	1.00[AMR][1000 genomes]
rs73480233	1.00[AMR][1000 genomes]
rs73480249	1.00[AMR][1000 genomes]
rs73480253	1.00[AMR][1000 genomes]
rs73480258	1.00[AMR][1000 genomes]
rs73482287	1.00[AMR][1000 genomes]
rs73482293	1.00[AMR][1000 genomes]
rs73482300	1.00[AMR][1000 genomes]
rs73482301	1.00[AMR][1000 genomes]
rs73484304	1.00[AMR][1000 genomes]
rs73484316	1.00[AMR][1000 genomes]
rs7994259	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49346400-49350600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr13:49346600-49357200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr13:49346800-49352200	Weak transcription	Left Ventricle	heart
4	chr13:49347400-49352000	Enhancers	Hela-S3	cervix
5	chr13:49347800-49352000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr13:49348400-49351400	Weak transcription	Placenta	Placenta
7	chr13:49349200-49351000	Enhancers	NH-A	brain
8	chr13:49349200-49351400	Enhancers	NHLF	lung
9	chr13:49349200-49356800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr13:49349600-49350600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr13:49349600-49350600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr13:49349600-49351200	Enhancers	Muscle Satellite Cultured Cells	--
13	chr13:49349600-49351200	Enhancers	HSMM	muscle
14	chr13:49349600-49351400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr13:49349800-49350400	Flanking Active TSS	Osteobl	bone
16	chr13:49349800-49350600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr13:49349800-49351000	Enhancers	HMEC	breast
18	chr13:49349800-49351000	Enhancers	HSMMtube	muscle
19	chr13:49349800-49351200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr13:49350000-49350400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr13:49350000-49350400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr13:49350000-49350400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr13:49350200-49350400	Flanking Active TSS	NHDF-Ad	bronchial

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