Variant report

Variant	rs73093303
Chromosome Location	chr5:58358071-58358072
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10037978	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10043404	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10045258	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10058672	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs10078108	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10079826	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13358675	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs13358738	0.87[AMR][1000 genomes]
rs13359707	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs13361668	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13362242	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16889181	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs16889190	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs28703107	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs28735903	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs56356290	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs58178219	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs59490646	0.87[AMR][1000 genomes]
rs60419833	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73093323	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73093324	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7700296	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7712076	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7719347	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs9292190	1.00[AFR][1000 genomes];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	esv2830363	chr5:57893949-58555491	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv830312	chr5:58191579-58382226	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv830313	chr5:58273724-58421098	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv1032308	chr5:58312468-58371239	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58336200-58375600	Weak transcription	Left Ventricle	heart
2	chr5:58337400-58359000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr5:58338800-58359200	Weak transcription	Fetal Muscle Leg	muscle
4	chr5:58338800-58362000	Weak transcription	Gastric	stomach
5	chr5:58339000-58365200	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr5:58340600-58359000	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr5:58346000-58359000	Weak transcription	Stomach Mucosa	stomach
8	chr5:58347200-58359200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr5:58348200-58362000	Weak transcription	Psoas Muscle	Psoas
10	chr5:58349600-58360600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr5:58350400-58360200	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr5:58350600-58360200	Weak transcription	Fetal Stomach	stomach
13	chr5:58351000-58359000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr5:58356400-58360800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr5:58356600-58360800	Enhancers	HepG2	liver
16	chr5:58357200-58360400	Enhancers	Colon Smooth Muscle	Colon
17	chr5:58357400-58360600	Flanking Active TSS	A549	lung
18	chr5:58357600-58358600	Genic enhancers	Hela-S3	cervix
19	chr5:58357600-58358800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr5:58357600-58362000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr5:58357800-58358200	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr5:58357800-58358800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr5:58357800-58360200	Weak transcription	HMEC	breast
24	chr5:58358000-58360600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr5:58358000-58361400	Weak transcription	NHEK	skin

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