Variant report

Variant	rs73254587
Chromosome Location	chr5:114935136-114935137
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:114877886..114879457-chr5:114935009..114937600,2	K562	blood:
2	chr5:114934797..114939548-chr5:114953575..114961976,8	K562	blood:
3	chr5:114934250..114936093-chr5:114941092..114942888,2	MCF-7	breast:
4	chr5:114934822..114937028-chr5:114947345..114950953,3	MCF-7	breast:
5	chr5:114934770..114936777-chr5:114950796..114953360,2	K562	blood:
6	chr5:114934667..114936866-chr5:114947563..114949959,2	K562	blood:
7	chr5:114933628..114936434-chr5:114936724..114940118,4	MCF-7	breast:
8	chr5:114934347..114936270-chr5:114951855..114953360,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000134970	Chromatin interaction
ENSG00000251201	Chromatin interaction
ENSG00000243414	Chromatin interaction
ENSG00000249249	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs56774716	0.90[AFR][1000 genomes]
rs57651143	0.90[AFR][1000 genomes]
rs57806423	0.90[AFR][1000 genomes]
rs58527582	1.00[AFR][1000 genomes]
rs58575550	0.90[AFR][1000 genomes]
rs58727668	1.00[AFR][1000 genomes]
rs59498080	0.90[AFR][1000 genomes]
rs60230535	0.90[AFR][1000 genomes]
rs60326995	0.90[AFR][1000 genomes]
rs6873889	1.00[AFR][1000 genomes]
rs73254564	0.80[AFR][1000 genomes]
rs73254573	1.00[AFR][1000 genomes]
rs73254575	1.00[AFR][1000 genomes]
rs73254578	1.00[AFR][1000 genomes]
rs73254581	0.80[AFR][1000 genomes]
rs73254582	1.00[AFR][1000 genomes]
rs73254585	1.00[AFR][1000 genomes]
rs73254592	1.00[AFR][1000 genomes]
rs73254595	1.00[AFR][1000 genomes]
rs73254599	1.00[AFR][1000 genomes]
rs73254601	0.91[AFR][1000 genomes]
rs73256603	0.91[AFR][1000 genomes]
rs73260535	1.00[AFR][1000 genomes]
rs73260536	1.00[AFR][1000 genomes]
rs73260539	0.86[AFR][1000 genomes]
rs73260540	0.90[AFR][1000 genomes]
rs73260542	0.90[AFR][1000 genomes]
rs73260543	0.90[AFR][1000 genomes]
rs73260545	0.90[AFR][1000 genomes]
rs73260548	0.90[AFR][1000 genomes]
rs73260552	0.90[AFR][1000 genomes]
rs73260555	0.90[AFR][1000 genomes]
rs73260556	0.90[AFR][1000 genomes]
rs73260562	0.90[AFR][1000 genomes]
rs73260563	0.90[AFR][1000 genomes]
rs73260565	0.90[AFR][1000 genomes]
rs73260567	0.90[AFR][1000 genomes]
rs73260572	0.90[AFR][1000 genomes]
rs73260574	0.90[AFR][1000 genomes]
rs73260579	0.90[AFR][1000 genomes]
rs73260580	0.90[AFR][1000 genomes]
rs73260583	0.90[AFR][1000 genomes]
rs73260584	0.90[AFR][1000 genomes]
rs73260585	0.90[AFR][1000 genomes]
rs73260586	0.90[AFR][1000 genomes]
rs73264716	0.90[AFR][1000 genomes]
rs73264723	0.90[AFR][1000 genomes]
rs73264732	0.90[AFR][1000 genomes]
rs7341161	0.90[AFR][1000 genomes]
rs7722595	0.90[AFR][1000 genomes]
rs7722614	0.82[AFR][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:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114911200-114935600	Weak transcription	Gastric	stomach
2	chr5:114913000-114935200	Weak transcription	Aorta	Aorta
3	chr5:114914400-114936200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr5:114914800-114937400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr5:114919800-114935600	Weak transcription	NH-A	brain
6	chr5:114921600-114935200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr5:114921600-114935400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:114925000-114935200	Weak transcription	Left Ventricle	heart
9	chr5:114925000-114937400	Weak transcription	Pancreas	Pancrea
10	chr5:114930200-114937400	Weak transcription	Hela-S3	cervix
11	chr5:114930600-114936400	Weak transcription	HUVEC	blood vessel
12	chr5:114930800-114935200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:114930800-114935200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr5:114930800-114935400	Weak transcription	HSMM	muscle
15	chr5:114930800-114935600	Weak transcription	Fetal Brain Female	brain
16	chr5:114931000-114935200	Weak transcription	Psoas Muscle	Psoas
17	chr5:114931000-114936800	Weak transcription	Fetal Brain Male	brain
18	chr5:114931200-114935200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr5:114931600-114935200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr5:114931600-114937000	Weak transcription	Fetal Intestine Small	intestine
21	chr5:114932600-114935200	Enhancers	Muscle Satellite Cultured Cells	--
22	chr5:114933000-114937400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:114933400-114935200	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr5:114933600-114935200	Weak transcription	Right Atrium	heart
25	chr5:114933600-114935200	Weak transcription	Right Ventricle	heart
26	chr5:114933800-114937200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr5:114934200-114935200	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr5:114934200-114935200	Enhancers	Stomach Smooth Muscle	stomach
29	chr5:114934200-114935200	Weak transcription	NHDF-Ad	bronchial
30	chr5:114934200-114935200	Weak transcription	Osteobl	bone
31	chr5:114934200-114936600	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr5:114934600-114935200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr5:114934600-114936600	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr5:114934600-114937200	Enhancers	Primary B cells from peripheral blood	blood
35	chr5:114934800-114935200	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr5:114934800-114936800	Enhancers	Adipose Nuclei	Adipose
37	chr5:114934800-114936800	Flanking Active TSS	GM12878-XiMat	blood
38	chr5:114935000-114935200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr5:114935000-114935200	Enhancers	Fetal Lung	lung
40	chr5:114935000-114935200	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr5:114935000-114935600	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr5:114935000-114936400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr5:114935000-114936600	Flanking Active TSS	NHLF	lung
44	chr5:114935000-114937000	Enhancers	Primary B cells from cord blood	blood
45	chr5:114935000-114937000	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr5:114935000-114937000	Enhancers	Colon Smooth Muscle	Colon
47	chr5:114935000-114937000	Enhancers	Fetal Heart	heart
48	chr5:114935000-114937200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr5:114935000-114937400	Enhancers	Brain Anterior Caudate	brain

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