Variant report

Variant	rs7719347
Chromosome Location	chr5:58375994-58375995
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10037978	1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs10043404	0.81[YRI][hapmap];0.87[AMR][1000 genomes]
rs10045258	0.82[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs10052007	0.89[AMR][1000 genomes]
rs10058672	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10074406	0.89[AMR][1000 genomes]
rs10078108	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs10079826	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs13358675	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13359707	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13361668	0.82[YRI][hapmap];0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs13362242	1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs16889181	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16889190	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17721311	0.82[YRI][hapmap]
rs28703107	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28735903	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56356290	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58178219	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59490646	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60419833	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6872107	0.90[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6890598	0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73093303	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73093323	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73093324	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7700296	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7712076	0.87[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs9292190	0.82[YRI][hapmap];0.88[AFR][1000 genomes];0.87[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	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

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58373400-58376000	Weak transcription	Fetal Lung	lung
2	chr5:58374600-58376000	Enhancers	Fetal Stomach	stomach
3	chr5:58375200-58376400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:58375200-58376400	Enhancers	Hela-S3	cervix
5	chr5:58375400-58376600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:58375400-58376600	Enhancers	Muscle Satellite Cultured Cells	--
7	chr5:58375400-58376600	Enhancers	NHEK	skin
8	chr5:58375600-58376000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr5:58375600-58376000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:58375600-58376000	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr5:58375600-58376000	Enhancers	Left Ventricle	heart
12	chr5:58375600-58376200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr5:58375600-58376200	Enhancers	Right Ventricle	heart
14	chr5:58375600-58376400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr5:58375600-58376400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr5:58375600-58376400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr5:58375600-58376400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr5:58375600-58376400	Enhancers	Right Atrium	heart
19	chr5:58375600-58376400	Enhancers	HepG2	liver
20	chr5:58375600-58376400	Enhancers	HMEC	breast
21	chr5:58375600-58376400	Enhancers	NH-A	brain
22	chr5:58375600-58376400	Enhancers	NHDF-Ad	bronchial
23	chr5:58375600-58376400	Enhancers	Osteobl	bone
24	chr5:58375600-58376600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr5:58375600-58376600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr5:58375600-58376600	Enhancers	HUVEC	blood vessel
27	chr5:58375600-58376600	Enhancers	NHLF	lung
28	chr5:58375600-58376800	Enhancers	HSMM	muscle
29	chr5:58375800-58376200	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr5:58375800-58376200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr5:58375800-58376200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr5:58375800-58376200	Enhancers	Pancreas	Pancrea
33	chr5:58375800-58376400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr5:58375800-58376400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr5:58375800-58376400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr5:58375800-58376400	Enhancers	Fetal Kidney	kidney
37	chr5:58375800-58376400	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr5:58375800-58376400	Flanking Active TSS	A549	lung
39	chr5:58375800-58376600	Enhancers	Colon Smooth Muscle	Colon
40	chr5:58375800-58376600	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr5:58375800-58376600	Enhancers	Fetal Heart	heart
42	chr5:58375800-58376600	Enhancers	Placenta Amnion	Placenta Amnion
43	chr5:58375800-58376600	Enhancers	Rectal Smooth Muscle	rectum

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