Variant report

Variant	rs73480257
Chromosome Location	chr13:49357730-49357731
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:20)

rs_ID	r²[population]
rs1025236	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11148120	0.82[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs11619503	0.83[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs12429873	0.82[ASN][1000 genomes]
rs12583213	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12583426	0.95[EUR][1000 genomes]
rs12585139	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1323554	0.80[AFR][1000 genomes]
rs17072194	0.84[AFR][1000 genomes]
rs57124495	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57850097	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73480207	0.86[ASN][1000 genomes]
rs73480217	0.86[ASN][1000 genomes]
rs73480223	0.82[AFR][1000 genomes]
rs73482295	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73482300	0.86[AFR][1000 genomes]
rs73484304	0.83[AFR][1000 genomes]
rs746030	0.93[ASN][1000 genomes]
rs7994259	0.87[AFR][1000 genomes]
rs7999498	0.93[ASN][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	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	nsv832606	chr13:49352212-49506009	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49356000-49358800	Enhancers	Placenta	Placenta
2	chr13:49356200-49358600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr13:49356400-49358600	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr13:49356400-49358800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr13:49356600-49358200	Enhancers	HMEC	breast
6	chr13:49356600-49358400	Enhancers	NHLF	lung
7	chr13:49356600-49359200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr13:49356800-49357800	Enhancers	Fetal Lung	lung
9	chr13:49356800-49358000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
10	chr13:49356800-49358000	Enhancers	Right Atrium	heart
11	chr13:49356800-49358200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr13:49356800-49358200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr13:49356800-49358200	Enhancers	Muscle Satellite Cultured Cells	--
14	chr13:49356800-49358200	Enhancers	Right Ventricle	heart
15	chr13:49356800-49358200	Enhancers	Osteobl	bone
16	chr13:49356800-49358400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr13:49356800-49358400	Enhancers	Left Ventricle	heart
18	chr13:49356800-49358400	Enhancers	NHDF-Ad	bronchial
19	chr13:49356800-49358600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr13:49357000-49358000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr13:49357000-49358000	Enhancers	HepG2	liver
22	chr13:49357200-49357800	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr13:49357200-49358200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr13:49357200-49358200	Enhancers	Lung	lung
25	chr13:49357200-49358200	Enhancers	HSMM	muscle
26	chr13:49357200-49358400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr13:49357200-49358400	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr13:49357400-49357800	Enhancers	Hela-S3	cervix
29	chr13:49357400-49365200	Weak transcription	NH-A	brain
30	chr13:49357600-49358200	Enhancers	A549	lung
31	chr13:49357600-49359200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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