Variant report

Variant	rs1015812
Chromosome Location	chr5:114906948-114906949
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10038493	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10041776	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10043094	0.87[ASN][1000 genomes]
rs10053572	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10073505	0.88[ASN][1000 genomes]
rs10079000	0.84[ASN][1000 genomes]
rs13153908	0.84[ASN][1000 genomes]
rs13184723	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13356084	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13357862	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2546484	0.87[ASN][1000 genomes]
rs256938	0.88[ASN][1000 genomes]
rs256965	0.80[ASN][1000 genomes]
rs256977	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs256989	0.94[ASN][1000 genomes]
rs256995	0.93[ASN][1000 genomes]
rs372702	0.88[ASN][1000 genomes]
rs6860557	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6878790	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6892071	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6893854	0.87[ASN][1000 genomes]
rs6894123	0.88[ASN][1000 genomes]
rs746566	0.89[ASN][1000 genomes]
rs766454	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9326964	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv1032234	chr5:114785557-114911527	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114894000-114907200	Weak transcription	Pancreas	Pancrea
2	chr5:114894600-114907000	Weak transcription	Psoas Muscle	Psoas
3	chr5:114894600-114908800	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr5:114895800-114907200	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr5:114896200-114908400	Weak transcription	NH-A	brain
6	chr5:114901400-114922400	Weak transcription	Fetal Muscle Leg	muscle
7	chr5:114902400-114911200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr5:114904800-114911200	Weak transcription	HSMMtube	muscle
9	chr5:114906200-114909000	Enhancers	Brain Anterior Caudate	brain
10	chr5:114906200-114909000	Enhancers	Brain Hippocampus Middle	brain
11	chr5:114906200-114910600	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr5:114906400-114908800	Enhancers	Brain Angular Gyrus	brain
13	chr5:114906400-114909000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr5:114906400-114909000	Enhancers	Brain Substantia Nigra	brain
15	chr5:114906400-114910400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr5:114906600-114908800	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr5:114906800-114907800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr5:114906800-114908000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr5:114906800-114908200	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr5:114906800-114910200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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