Variant report

Variant	rs72817130
Chromosome Location	chr5:114924657-114924658
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs72815264	1.00[AFR][1000 genomes]
rs72817114	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72817122	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72817124	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72817141	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv916273	chr5:114656592-115089901	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv830455	chr5:114761542-114938284	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	esv1796164	chr5:114854685-114936768	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114910400-114925200	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr5:114910400-114929400	Weak transcription	Adipose Nuclei	Adipose
3	chr5:114911200-114935600	Weak transcription	Gastric	stomach
4	chr5:114913000-114935200	Weak transcription	Aorta	Aorta
5	chr5:114914400-114936200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr5:114914800-114937400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr5:114919400-114930000	Weak transcription	HSMM	muscle
8	chr5:114919600-114924800	Weak transcription	Pancreas	Pancrea
9	chr5:114919800-114935600	Weak transcription	NH-A	brain
10	chr5:114920000-114929400	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr5:114920000-114929600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr5:114920400-114929600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr5:114920600-114929600	Weak transcription	Osteobl	bone
14	chr5:114921400-114925600	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr5:114921600-114930000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr5:114921600-114935200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr5:114921600-114935400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr5:114921800-114925000	Weak transcription	Colon Smooth Muscle	Colon
19	chr5:114922600-114925000	Enhancers	Psoas Muscle	Psoas
20	chr5:114922800-114929600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr5:114922800-114929600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr5:114922800-114930400	Weak transcription	NHLF	lung
23	chr5:114923200-114929400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr5:114923600-114925400	Enhancers	Fetal Heart	heart
25	chr5:114923800-114925400	Enhancers	Fetal Brain Female	brain
26	chr5:114923800-114926400	Weak transcription	Right Atrium	heart
27	chr5:114924000-114925200	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr5:114924000-114925200	Enhancers	Stomach Smooth Muscle	stomach
29	chr5:114924200-114925000	Genic enhancers	GM12878-XiMat	blood
30	chr5:114924400-114924800	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr5:114924400-114925000	Enhancers	Left Ventricle	heart
32	chr5:114924400-114926800	Strong transcription	Monocytes-CD14+_RO01746	blood

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