Variant report

Variant	rs11747651
Chromosome Location	chr5:49444680-49444681
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10054827	0.92[EUR][1000 genomes]
rs10067381	0.93[EUR][1000 genomes]
rs10471767	0.90[EUR][1000 genomes]
rs10471784	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10940090	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10940514	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10940520	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10940533	0.98[EUR][1000 genomes]
rs10940646	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11748483	0.89[EUR][1000 genomes]
rs11950947	0.80[EUR][1000 genomes]
rs11953016	0.86[EUR][1000 genomes]
rs12188257	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12513792	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12515555	0.84[EUR][1000 genomes]
rs12521033	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12521333	0.86[EUR][1000 genomes]
rs12521903	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13160767	0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13175165	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13178037	0.82[EUR][1000 genomes]
rs2199089	0.81[EUR][1000 genomes]
rs2199093	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2199098	0.82[ASN][1000 genomes]
rs35295454	0.80[EUR][1000 genomes]
rs4250105	0.82[EUR][1000 genomes]
rs4250165	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4302633	0.84[EUR][1000 genomes]
rs4379243	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4415115	0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs471535	0.84[AMR][1000 genomes]
rs4865549	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4865551	0.93[EUR][1000 genomes]
rs4865567	0.82[EUR][1000 genomes]
rs4865728	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4865778	0.88[EUR][1000 genomes]
rs4865799	0.88[EUR][1000 genomes]
rs4865801	0.95[EUR][1000 genomes]
rs4865803	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4865966	0.93[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4866006	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs530430	0.82[AMR][1000 genomes]
rs7293312	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7293348	0.82[EUR][1000 genomes]
rs7293378	0.84[EUR][1000 genomes]
rs7293410	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7293414	0.83[EUR][1000 genomes]
rs7293422	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7293501	0.85[EUR][1000 genomes]
rs8185119	0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8188146	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8188289	0.94[EUR][1000 genomes]
rs9688065	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9688258	0.98[EUR][1000 genomes]
rs9800135	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv19415	chr5:49405763-49485157	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	n/a	n/a	inside rSNPs	diseases
2	nsv820439	chr5:49405763-49552643	ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
3	esv15107	chr5:49405763-49562327	Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv2760950	chr5:49432831-49624358	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv598089	chr5:49441601-49547088	ZNF genes & repeats Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv598090	chr5:49441966-49514368	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	inside rSNPs	diseases
7	nsv598091	chr5:49441966-49547088	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11747651	EMB	cis	Thyroid	GTEx
rs11747651	EMB	cis	Skin Sun Exposed Lower leg	GTEx
rs11747651	EMB	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:49441400-49447800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr5:49441400-49447800	Weak transcription	GM12878-XiMat	blood
3	chr5:49441400-49448800	Weak transcription	Fetal Heart	heart
4	chr5:49441400-49450400	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr5:49441400-49450400	Weak transcription	Hela-S3	cervix
6	chr5:49441400-49450400	Weak transcription	NH-A	brain
7	chr5:49441400-49450400	Weak transcription	NHEK	skin
8	chr5:49441400-49450400	Weak transcription	Osteobl	bone

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links