Variant report

Variant	rs10045048
Chromosome Location	chr5:1773209-1773210
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:1769289..1773807-chr5:1880777..1884094,4	MCF-7	breast:
2	chr5:1667119..1667843-chr5:1772505..1773334,2	MCF-7	breast:
3	chr5:1772113..1774072-chr5:2135789..2137462,2	MCF-7	breast:
4	chr5:1771944..1774138-chr5:1779447..1781519,2	MCF-7	breast:
5	chr5:1771125..1773544-chr5:1782725..1784376,2	MCF-7	breast:
6	chr5:1772879..1774842-chr5:1799221..1802231,3	MCF-7	breast:
7	chr5:1772591..1773619-chr5:2017406..2018159,3	MCF-7	breast:
8	chr5:1771533..1774421-chr5:1800123..1801967,2	K562	blood:

Variant related genes	Relation type
ENSG00000113430	Chromatin interaction
ENSG00000249116	Chromatin interaction
ENSG00000145494	Chromatin interaction
ENSG00000171421	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10037336	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10051882	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10058270	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10062133	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10070488	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10078791	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10085011	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10475110	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10475112	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10475113	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11505118	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11505119	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13361288	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16884830	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16901194	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28402979	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28573163	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28609097	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2883061	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs464685	0.84[EUR][1000 genomes]
rs58926651	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59515251	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6555013	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6861074	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs6861795	1.00[ASN][1000 genomes]
rs6862138	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs6862330	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6862520	1.00[ASN][1000 genomes]
rs6864000	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6866992	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6875087	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6880349	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6881623	0.81[EUR][1000 genomes]
rs6885220	1.00[ASN][1000 genomes]
rs6888753	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6895439	0.89[EUR][1000 genomes]
rs6899016	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73734916	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73734940	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73734941	1.00[ASN][1000 genomes]
rs7707424	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7709350	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7711522	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7718031	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs7723998	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs7725178	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs924462	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9312955	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv933805	chr5:1450724-1941619	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	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
3	nsv1016383	chr5:1658338-1775551	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Weak transcription Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region miRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1034552	chr5:1658338-1856553	Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
5	nsv537606	chr5:1658338-1856553	Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
6	nsv881179	chr5:1705102-1775600	Bivalent Enhancer Genic enhancers Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1033147	chr5:1717303-1815821	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
8	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
9	nsv1020703	chr5:1724199-1814288	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
10	nsv537608	chr5:1724199-1814288	Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
11	nsv1024133	chr5:1736691-1826510	Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
12	nsv537609	chr5:1736691-1826510	Genic enhancers Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
13	nsv596889	chr5:1753306-1775600	Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
14	nsv881123	chr5:1753306-1775600	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:1772000-1777400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:1772400-1788400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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