Variant report

Variant	rs73254581
Chromosome Location	chr5:114933254-114933255
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:114933227-114933639	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000249249	TF binding region

Extended variants
information (count: 33 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs58527582	0.80[AFR][1000 genomes]
rs58727668	0.80[AFR][1000 genomes]
rs6873889	0.80[AFR][1000 genomes]
rs73251180	0.83[AFR][1000 genomes]
rs73251187	0.83[AFR][1000 genomes]
rs73251189	0.83[AFR][1000 genomes]
rs73251191	0.83[AFR][1000 genomes]
rs73251195	0.83[AFR][1000 genomes]
rs73251200	0.83[AFR][1000 genomes]
rs73253004	0.83[AFR][1000 genomes]
rs73253008	0.83[AFR][1000 genomes]
rs73253009	0.83[AFR][1000 genomes]
rs73253016	0.83[AFR][1000 genomes]
rs73253018	0.83[AFR][1000 genomes]
rs73254564	1.00[AFR][1000 genomes]
rs73254573	0.80[AFR][1000 genomes]
rs73254575	0.80[AFR][1000 genomes]
rs73254578	0.80[AFR][1000 genomes]
rs73254582	0.80[AFR][1000 genomes]
rs73254585	0.80[AFR][1000 genomes]
rs73254587	0.80[AFR][1000 genomes]
rs73254592	0.80[AFR][1000 genomes]
rs73254595	0.80[AFR][1000 genomes]
rs73254599	0.80[AFR][1000 genomes]
rs73260535	0.80[AFR][1000 genomes]
rs73260536	0.80[AFR][1000 genomes]
rs73260551	0.82[AFR][1000 genomes]
rs73264742	0.94[AFR][1000 genomes]
rs7730778	0.83[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:34 , 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	chr5:114925000-114934000	Weak transcription	GM12878-XiMat	blood
9	chr5:114925000-114935200	Weak transcription	Left Ventricle	heart
10	chr5:114925000-114937400	Weak transcription	Pancreas	Pancrea
11	chr5:114930200-114935000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr5:114930200-114937400	Weak transcription	Hela-S3	cervix
13	chr5:114930400-114934800	Weak transcription	Adipose Nuclei	Adipose
14	chr5:114930600-114936400	Weak transcription	HUVEC	blood vessel
15	chr5:114930800-114933400	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr5:114930800-114935200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr5:114930800-114935200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr5:114930800-114935400	Weak transcription	HSMM	muscle
19	chr5:114930800-114935600	Weak transcription	Fetal Brain Female	brain
20	chr5:114931000-114934600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr5:114931000-114935000	Weak transcription	NHLF	lung
22	chr5:114931000-114935200	Weak transcription	Psoas Muscle	Psoas
23	chr5:114931000-114936800	Weak transcription	Fetal Brain Male	brain
24	chr5:114931200-114933400	Weak transcription	NHDF-Ad	bronchial
25	chr5:114931200-114935200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr5:114931600-114935200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr5:114931600-114937000	Weak transcription	Fetal Intestine Small	intestine
28	chr5:114931800-114933400	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr5:114932400-114933600	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr5:114932600-114933400	Enhancers	Osteobl	bone
31	chr5:114932600-114933600	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr5:114932600-114935200	Enhancers	Muscle Satellite Cultured Cells	--
33	chr5:114933000-114933400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr5:114933000-114937400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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