Variant report

Variant	rs56978333
Chromosome Location	chr19:43150164-43150165
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:43149390..43151656-chr19:43158079..43159963,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231561	Chromatin interaction

Extended variants
information (count: 97 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10402361	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10402401	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10402677	0.83[ASN][1000 genomes]
rs10403979	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10404402	0.82[ASN][1000 genomes]
rs10404509	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10405646	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10407178	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10407576	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10410147	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10411165	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10411458	0.87[ASN][1000 genomes]
rs10411945	0.81[EUR][1000 genomes]
rs10412463	0.83[ASN][1000 genomes]
rs10414602	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10415564	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10416089	0.81[ASN][1000 genomes]
rs10417418	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10417693	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10419378	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10420164	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10420796	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10421108	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10421620	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10421881	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10422573	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10423291	0.87[ASN][1000 genomes]
rs10425241	0.83[EUR][1000 genomes]
rs10469271	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10469285	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10469286	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1076243	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11083659	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11665767	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11666425	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11666835	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11666862	0.87[ASN][1000 genomes]
rs11668009	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11668460	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11669892	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11670316	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11673684	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11882882	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12327586	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13346414	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16975890	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1859341	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2267631	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28447294	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2883270	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4499340	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55641435	0.87[ASN][1000 genomes]
rs55850134	0.81[ASN][1000 genomes]
rs56237547	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57902582	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59525393	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60052467	0.83[EUR][1000 genomes]
rs60662795	0.85[ASN][1000 genomes]
rs6509016	0.87[ASN][1000 genomes]
rs6509017	0.87[ASN][1000 genomes]
rs6509020	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7247618	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7248042	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7248297	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7249411	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7253209	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73562329	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs758034	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8102519	0.87[ASN][1000 genomes]
rs8103285	0.87[ASN][1000 genomes]
rs8106083	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8107152	0.83[ASN][1000 genomes]
rs8108816	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8110766	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8110917	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9304604	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9807808	0.82[EUR][1000 genomes]
rs9807920	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526186	chr19:42676481-43203507	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
2	esv2422471	chr19:42733141-43669485	Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
3	esv2422468	chr19:42991289-43669027	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1057390	chr19:43003323-43173028	Enhancers Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv482597	chr19:43037214-43222644	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv2758501	chr19:43042747-43899053	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
7	esv2758763	chr19:43042747-43899053	Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
8	nsv428023	chr19:43042747-43899053	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
9	esv2422227	chr19:43059426-43669485	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	nsv1064734	chr19:43076046-43182478	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv1058936	chr19:43082848-43228161	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	esv3368556	chr19:43121424-43180449	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv978897	chr19:43137733-43151377	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	nsv1063042	chr19:43139043-43175294	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv1056270	chr19:43139043-43542819	Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
16	nsv544007	chr19:43141984-43529861	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
17	nsv1061798	chr19:43141984-43741311	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
18	nsv544008	chr19:43141984-43741311	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
19	esv2754239	chr19:43145417-43559330	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

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

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

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