Variant report

Variant	rs17473708
Chromosome Location	chr5:114919774-114919775
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11740361	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1427860	0.84[EUR][1000 genomes]
rs17137978	0.84[EUR][1000 genomes]
rs17393505	0.81[EUR][1000 genomes]
rs17395548	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17395582	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17472256	0.86[AFR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17472710	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17473484	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17473792	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17474216	0.98[EUR][1000 genomes]
rs2194114	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3776801	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3776802	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73253029	0.94[ASN][1000 genomes]
rs7712026	0.84[EUR][1000 genomes];0.84[ASN][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:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114901400-114922400	Weak transcription	Fetal Muscle Leg	muscle
2	chr5:114910400-114925200	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr5:114910400-114929400	Weak transcription	Adipose Nuclei	Adipose
4	chr5:114911200-114935600	Weak transcription	Gastric	stomach
5	chr5:114911800-114922400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr5:114912000-114924600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr5:114912200-114920400	Weak transcription	NHEK	skin
8	chr5:114912200-114921400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:114913000-114935200	Weak transcription	Aorta	Aorta
10	chr5:114913600-114924400	Weak transcription	Placenta	Placenta
11	chr5:114913800-114921000	Weak transcription	Fetal Lung	lung
12	chr5:114914400-114936200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr5:114914800-114937400	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr5:114915200-114924600	Weak transcription	Primary B cells from cord blood	blood
15	chr5:114915400-114921400	Weak transcription	Brain Anterior Caudate	brain
16	chr5:114915600-114921200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr5:114915600-114924000	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr5:114916400-114920400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr5:114916400-114921400	Weak transcription	Lung	lung
20	chr5:114917000-114921200	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr5:114918400-114920400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr5:114918600-114919800	Enhancers	GM12878-XiMat	blood
23	chr5:114918600-114919800	Enhancers	HSMMtube	muscle
24	chr5:114918600-114920400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr5:114918600-114920600	Enhancers	Osteobl	bone
26	chr5:114918600-114922800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr5:114918600-114922800	Enhancers	NHDF-Ad	bronchial
28	chr5:114918800-114919800	Enhancers	NH-A	brain
29	chr5:114918800-114920000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr5:114918800-114920000	Enhancers	Muscle Satellite Cultured Cells	--
31	chr5:114918800-114920200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr5:114919000-114920400	Genic enhancers	NHLF	lung
33	chr5:114919000-114921600	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr5:114919200-114920200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr5:114919200-114920400	Enhancers	HMEC	breast
36	chr5:114919200-114921600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr5:114919400-114930000	Weak transcription	HSMM	muscle
38	chr5:114919600-114921000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr5:114919600-114921000	Weak transcription	Psoas Muscle	Psoas
40	chr5:114919600-114921400	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr5:114919600-114922000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr5:114919600-114923600	Weak transcription	Right Atrium	heart
43	chr5:114919600-114924400	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr5:114919600-114924400	Weak transcription	Left Ventricle	heart
45	chr5:114919600-114924800	Weak transcription	Pancreas	Pancrea

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