Variant report

Variant	rs7706044
Chromosome Location	chr5:58362697-58362698
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11948651	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11955850	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11957770	0.87[YRI][hapmap]

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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58336200-58375600	Weak transcription	Left Ventricle	heart
2	chr5:58339000-58365200	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr5:58358200-58364200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr5:58358200-58365000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr5:58358600-58362800	Enhancers	Osteobl	bone
6	chr5:58359400-58365200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr5:58359600-58364800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr5:58359800-58363200	Weak transcription	Fetal Lung	lung
9	chr5:58360200-58366000	Enhancers	HSMM	muscle
10	chr5:58360400-58365000	Weak transcription	Colon Smooth Muscle	Colon
11	chr5:58360600-58362800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr5:58360600-58363200	Enhancers	Hela-S3	cervix
13	chr5:58360600-58373800	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr5:58360800-58362800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr5:58360800-58367200	Weak transcription	HepG2	liver
16	chr5:58361000-58365800	Enhancers	HSMMtube	muscle
17	chr5:58362000-58362800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr5:58362000-58362800	Enhancers	NH-A	brain
19	chr5:58362000-58363000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr5:58362200-58366000	Enhancers	Muscle Satellite Cultured Cells	--
21	chr5:58362400-58363200	Weak transcription	Gastric	stomach
22	chr5:58362400-58363400	Genic enhancers	A549	lung
23	chr5:58362400-58363800	Weak transcription	Right Ventricle	heart
24	chr5:58362400-58364200	Weak transcription	NHDF-Ad	bronchial
25	chr5:58362400-58364200	Weak transcription	NHLF	lung
26	chr5:58362400-58368200	Weak transcription	Psoas Muscle	Psoas
27	chr5:58362600-58364400	Weak transcription	HMEC	breast
28	chr5:58362600-58365000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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