Variant report

Variant	rs6489320
Chromosome Location	chr12:1794321-1794322
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:1785744..1787264-chr12:1793321..1795508,2	K562	blood:
2	chr12:1794172..1796468-chr12:1859826..1862181,2	K562	blood:
3	chr12:1764519..1766471-chr12:1793295..1795076,2	MCF-7	breast:
4	chr12:1789009..1790648-chr12:1794138..1796039,2	K562	blood:
5	chr12:1790456..1792262-chr12:1794047..1796171,2	K562	blood:
6	chr12:1793748..1796925-chr12:1797509..1802549,6	MCF-7	breast:
7	chr12:1793692..1795420-chr12:1798633..1800631,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000006831	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1029629	0.99[ASN][1000 genomes]
rs10848551	0.97[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10848552	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10848553	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11061918	0.83[ASN][1000 genomes]
rs11061920	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11061921	0.88[AFR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11061924	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11061925	0.86[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs11061927	0.84[AFR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11061957	0.92[ASN][1000 genomes]
rs11061962	0.82[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs1136213	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11832817	0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs11833054	0.81[AFR][1000 genomes]
rs12230579	0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs12231894	0.82[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs12582624	0.94[ASN][1000 genomes]
rs12810020	0.80[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2058034	0.87[AFR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2058035	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2370055	0.84[ASN][1000 genomes]
rs34375871	0.82[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs4766413	0.94[ASN][1000 genomes]
rs6489323	0.83[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs6489324	0.94[ASN][1000 genomes]
rs66590925	0.82[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs7132033	0.84[AFR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7297509	0.80[AFR][1000 genomes];0.94[ASN][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	nsv1042863	chr12:1163817-1902302	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv541345	chr12:1163817-1902302	Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv832304	chr12:1710249-1868642	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription 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 miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv832305	chr12:1769852-1936054	Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv948480	chr12:1776217-2284333	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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