Variant report

Variant	rs73444091
Chromosome Location	chr13:30031458-30031459
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs17073395	0.93[EUR][1000 genomes]
rs17073412	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17073418	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17073426	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17658712	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17658743	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1986717	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2388077	0.93[EUR][1000 genomes]
rs3923361	0.93[EUR][1000 genomes]
rs4379923	0.93[EUR][1000 genomes]
rs4512950	0.93[EUR][1000 genomes]
rs4616138	0.95[EUR][1000 genomes]
rs55842638	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56091401	0.95[EUR][1000 genomes]
rs56394814	0.93[EUR][1000 genomes]
rs57161860	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs57762277	0.93[EUR][1000 genomes]
rs57959769	0.93[EUR][1000 genomes]
rs57993747	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs58044581	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs58848825	0.93[EUR][1000 genomes]
rs59698584	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs60642819	0.93[EUR][1000 genomes]
rs60977472	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61139396	0.95[EUR][1000 genomes]
rs61281018	0.95[EUR][1000 genomes]
rs71090257	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7317720	0.93[EUR][1000 genomes]
rs7335252	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7336242	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7339339	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73444071	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73444079	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73444086	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73444093	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73444097	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73444099	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73444101	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73446103	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73446106	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73446109	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73446111	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs74042075	0.93[EUR][1000 genomes]
rs74042084	0.93[EUR][1000 genomes]
rs74042086	0.93[EUR][1000 genomes]
rs74042090	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs74042093	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7999813	0.93[EUR][1000 genomes]
rs8002833	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8003005	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9508462	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427927	chr13:29729315-30062054	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv275414	chr13:30029818-30036181	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30015200-30054800	Weak transcription	Dnd41	blood
2	chr13:30027000-30032000	Enhancers	Fetal Heart	heart
3	chr13:30028600-30034800	Enhancers	HMEC	breast
4	chr13:30029200-30031600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr13:30029200-30038800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr13:30029400-30038200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr13:30029600-30036000	Weak transcription	Left Ventricle	heart
8	chr13:30029600-30039400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr13:30029600-30039600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr13:30029800-30035000	Enhancers	K562	blood
11	chr13:30030200-30034800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr13:30030200-30035000	Enhancers	NHEK	skin
13	chr13:30030400-30034200	Enhancers	HSMMtube	muscle
14	chr13:30030600-30032400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr13:30030600-30032800	Enhancers	HSMM	muscle
16	chr13:30030600-30035000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr13:30031000-30032200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr13:30031200-30032000	Enhancers	NHDF-Ad	bronchial
19	chr13:30031200-30032200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr13:30031200-30032400	Enhancers	Muscle Satellite Cultured Cells	--
21	chr13:30031200-30032600	Enhancers	Osteobl	bone
22	chr13:30031200-30033000	Enhancers	NH-A	brain
23	chr13:30031400-30032000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr13:30031400-30032000	Enhancers	Hela-S3	cervix
25	chr13:30031400-30032000	Enhancers	HUVEC	blood vessel
26	chr13:30031400-30032200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr13:30031400-30032400	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr13:30031400-30032400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr13:30031400-30032400	Enhancers	Placenta	Placenta

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