Variant report

Variant	rs7319483
Chromosome Location	chr13:85021648-85021649
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10871180	0.91[ASN][1000 genomes]
rs12876518	0.89[ASN][1000 genomes]
rs1330505	0.84[ASN][1000 genomes]
rs1330508	0.89[ASN][1000 genomes]
rs1330510	0.91[ASN][1000 genomes]
rs1360307	0.91[ASN][1000 genomes]
rs1411541	0.91[ASN][1000 genomes]
rs1541076	0.91[ASN][1000 genomes]
rs1547922	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1547923	0.91[ASN][1000 genomes]
rs1581964	0.91[ASN][1000 genomes]
rs1581965	0.90[ASN][1000 genomes]
rs1590915	0.90[ASN][1000 genomes]
rs1952700	0.90[ASN][1000 genomes]
rs2150141	0.91[ASN][1000 genomes]
rs2150142	0.90[ASN][1000 genomes]
rs2150143	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2150144	0.91[ASN][1000 genomes]
rs2150145	0.91[ASN][1000 genomes]
rs2150146	0.90[ASN][1000 genomes]
rs2183437	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2329327	0.91[ASN][1000 genomes]
rs2876813	0.91[ASN][1000 genomes]
rs4505197	0.90[ASN][1000 genomes]
rs4620851	0.89[ASN][1000 genomes]
rs6563391	0.91[ASN][1000 genomes]
rs6563394	0.91[ASN][1000 genomes]
rs6563395	0.91[ASN][1000 genomes]
rs6650358	0.90[ASN][1000 genomes]
rs6650458	0.91[ASN][1000 genomes]
rs7317508	0.91[ASN][1000 genomes]
rs7319107	0.89[ASN][1000 genomes]
rs7320691	0.89[ASN][1000 genomes]
rs7331113	0.91[ASN][1000 genomes]
rs7983867	0.91[ASN][1000 genomes]
rs7988268	0.92[ASN][1000 genomes]
rs7998595	0.91[ASN][1000 genomes]
rs7998835	0.89[ASN][1000 genomes]
rs9319038	0.91[ASN][1000 genomes]
rs9319039	0.91[ASN][1000 genomes]
rs9319040	0.91[ASN][1000 genomes]
rs9319041	0.91[ASN][1000 genomes]
rs9319042	0.91[ASN][1000 genomes]
rs9531583	0.91[ASN][1000 genomes]
rs9531587	0.92[ASN][1000 genomes]
rs9546668	0.89[ASN][1000 genomes]
rs9546670	0.91[ASN][1000 genomes]
rs9546671	0.91[ASN][1000 genomes]
rs9546672	0.91[ASN][1000 genomes]
rs9546675	0.91[ASN][1000 genomes]
rs9546676	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9546677	0.91[ASN][1000 genomes]
rs9546680	0.91[ASN][1000 genomes]
rs9546684	0.92[ASN][1000 genomes]
rs9565934	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9575568	0.89[ASN][1000 genomes]
rs9575569	0.90[ASN][1000 genomes]
rs9575571	0.91[ASN][1000 genomes]
rs9575574	0.92[ASN][1000 genomes]
rs9575576	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9593922	0.89[ASN][1000 genomes]
rs9602471	0.83[ASN][1000 genomes]
rs960830	0.91[ASN][1000 genomes]
rs960831	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949402	chr13:84675752-85606846	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv832665	chr13:84848087-85041311	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv900690	chr13:84877516-85052477	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	esv2754893	chr13:84931199-85055599	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv456046	chr13:84971270-85262508	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv562561	chr13:84971270-85262508	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:85018800-85022000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr13:85019000-85022000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr13:85019400-85022200	Enhancers	HMEC	breast
4	chr13:85019600-85021800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr13:85020000-85022200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr13:85020200-85022200	Enhancers	Esophagus	oesophagus
7	chr13:85020600-85022000	Enhancers	NHEK	skin
8	chr13:85020600-85022200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr13:85021000-85022600	Enhancers	Brain Germinal Matrix	brain
10	chr13:85021200-85021800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr13:85021200-85022200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr13:85021400-85022600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr13:85021600-85021800	Enhancers	Placenta Amnion	Placenta Amnion
14	chr13:85021600-85022600	Flanking Active TSS	Adipose Nuclei	Adipose

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