Variant report

Variant	rs12290308
Chromosome Location	chr11:66776508-66776509
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:66769957..66773007-chr11:66774536..66777509,4	MCF-7	breast:
2	chr11:66765257..66769768-chr11:66775296..66778044,4	MCF-7	breast:
3	chr11:66761490..66778711-chr11:66821814..66832221,36	MCF-7	breast:
4	chr11:66623346..66625610-chr11:66776006..66778363,2	K562	blood:
5	chr11:66772630..66777861-chr11:66788171..66792271,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173227	Chromatin interaction
ENSG00000173156	Chromatin interaction
ENSG00000173621	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10160663	1.00[EUR][1000 genomes]
rs10896146	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10896147	1.00[EUR][1000 genomes]
rs10896148	1.00[EUR][1000 genomes]
rs11227645	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11227647	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11227654	1.00[EUR][1000 genomes]
rs11227655	1.00[EUR][1000 genomes]
rs11227659	1.00[EUR][1000 genomes]
rs11227662	1.00[EUR][1000 genomes]
rs11227664	1.00[EUR][1000 genomes]
rs12222286	1.00[EUR][1000 genomes]
rs12270068	1.00[EUR][1000 genomes]
rs12270183	1.00[EUR][1000 genomes]
rs12273240	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12274897	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12275124	0.88[AFR][1000 genomes]
rs12275370	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12276046	1.00[EUR][1000 genomes]
rs12277065	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12277720	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12279585	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12281292	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12281335	1.00[EUR][1000 genomes]
rs12281512	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12282433	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12282440	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12284422	1.00[EUR][1000 genomes]
rs12284764	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12284808	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12284860	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12285661	1.00[EUR][1000 genomes]
rs12287658	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12288309	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12288354	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12290429	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12290836	0.92[AFR][1000 genomes]
rs12290886	0.92[AFR][1000 genomes]
rs12290950	0.92[AFR][1000 genomes]
rs12292728	1.00[EUR][1000 genomes]
rs12293275	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12788732	1.00[EUR][1000 genomes]
rs56173916	1.00[EUR][1000 genomes]
rs56973649	1.00[EUR][1000 genomes]
rs57604888	1.00[EUR][1000 genomes]
rs57748654	1.00[EUR][1000 genomes]
rs57946225	1.00[EUR][1000 genomes]
rs60751057	1.00[EUR][1000 genomes]
rs7109580	1.00[EUR][1000 genomes]
rs7123934	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7128943	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73493529	1.00[EUR][1000 genomes]
rs73493531	1.00[EUR][1000 genomes]
rs73501797	1.00[EUR][1000 genomes]
rs73501800	1.00[EUR][1000 genomes]
rs7924894	1.00[EUR][1000 genomes]
rs7925264	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7941982	1.00[EUR][1000 genomes]
rs7942885	1.00[EUR][1000 genomes]
rs7948985	1.00[EUR][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	nsv555226	chr11:66579572-66845362	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv428574	chr11:66619002-66804133	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv832194	chr11:66634462-66805980	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
4	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
5	esv1817552	chr11:66751014-66839985	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66774400-66782600	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr11:66774400-66782800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:66774600-66777400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr11:66774600-66782600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr11:66774600-66782600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr11:66774600-66783000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:66774600-66783000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr11:66774600-66784000	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr11:66774800-66780400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr11:66774800-66782800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr11:66774800-66782800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr11:66774800-66789000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr11:66775800-66777600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr11:66776000-66776600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr11:66776200-66776600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr11:66776400-66777600	Enhancers	Liver	Liver

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