Variant report

Variant	rs11952624
Chromosome Location	chr5:2048825-2048826
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10062040	0.97[ASN][1000 genomes]
rs10070010	0.85[EUR][1000 genomes]
rs10078909	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11951849	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13173751	0.85[EUR][1000 genomes]
rs13183483	0.86[EUR][1000 genomes]
rs13190016	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28722145	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34007128	0.94[ASN][1000 genomes]
rs34305401	0.94[ASN][1000 genomes]
rs35258555	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35695980	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35717291	0.96[ASN][1000 genomes]
rs4502871	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4529249	0.85[EUR][1000 genomes]
rs4604223	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4604224	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6884854	0.81[ASN][1000 genomes]
rs7711582	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817407	chr5:1495354-2191460	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	107 gene(s)	inside rSNPs	diseases
2	nsv869236	chr5:1719263-2259100	Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
3	nsv915846	chr5:1891098-2167677	Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1026930	chr5:1898993-2126061	Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv427705	chr5:1950467-2115059	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv596900	chr5:2020274-2066165	Enhancers Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv1028582	chr5:2038130-2063667	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1032941	chr5:2038130-2072872	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	esv2830148	chr5:2041665-2058143	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv520041	chr5:2041665-2066165	Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv596901	chr5:2041665-2066165	ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv596902	chr5:2041665-2069209	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
13	nsv1032759	chr5:2044117-2091631	Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv1020211	chr5:2045699-2104887	Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:2046000-2056800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr5:2048400-2049400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:2048600-2049000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

Quick Search:

Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

what's new

Quick links