Variant report

Variant	rs2393753
Chromosome Location	chr12:121555497-121555498
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:121548947..121551862-chr12:121555011..121556681,2	MCF-7	breast:
2	chr12:121552705..121555604-chr12:121668224..121669822,2	MCF-7	breast:
3	chr12:121554481..121556246-chr12:121646405..121649275,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135124	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs12810503	0.88[ASN][1000 genomes]
rs12813980	0.83[ASN][1000 genomes]
rs12816966	0.88[ASN][1000 genomes]
rs12817169	0.88[ASN][1000 genomes]
rs12819523	0.82[ASN][1000 genomes]
rs12819930	0.85[ASN][1000 genomes]
rs12820593	0.83[ASN][1000 genomes]
rs12830584	0.83[ASN][1000 genomes]
rs12832396	0.83[ASN][1000 genomes]
rs1718153	0.88[ASN][1000 genomes]
rs17432871	0.88[ASN][1000 genomes]
rs17434640	0.83[ASN][1000 genomes]
rs17525809	0.83[ASN][1000 genomes]
rs2260138	0.88[ASN][1000 genomes]
rs2393752	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2393754	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28969465	0.88[ASN][1000 genomes]
rs28969469	0.88[ASN][1000 genomes]
rs34185850	0.83[ASN][1000 genomes]
rs34449339	0.82[ASN][1000 genomes]
rs34480856	0.83[ASN][1000 genomes]
rs34572498	0.83[ASN][1000 genomes]
rs34805626	0.82[ASN][1000 genomes]
rs35018823	0.83[ASN][1000 genomes]
rs35076950	0.83[ASN][1000 genomes]
rs35158421	0.82[ASN][1000 genomes]
rs35579189	0.88[ASN][1000 genomes]
rs35605477	0.83[ASN][1000 genomes]
rs35760636	0.88[ASN][1000 genomes]
rs35869834	0.85[ASN][1000 genomes]
rs36133237	0.82[ASN][1000 genomes]
rs494986	0.88[ASN][1000 genomes]
rs513113	0.88[ASN][1000 genomes]
rs514109	0.88[ASN][1000 genomes]
rs56098349	0.82[ASN][1000 genomes]
rs583187	0.88[ASN][1000 genomes]
rs585847	0.88[ASN][1000 genomes]
rs588130	0.88[ASN][1000 genomes]
rs588510	0.88[ASN][1000 genomes]
rs588573	0.88[ASN][1000 genomes]
rs599785	0.88[ASN][1000 genomes]
rs601636	0.83[ASN][1000 genomes]
rs603505	0.80[ASN][1000 genomes]
rs603891	0.88[ASN][1000 genomes]
rs618201	0.88[ASN][1000 genomes]
rs657172	0.88[ASN][1000 genomes]
rs66570654	0.88[ASN][1000 genomes]
rs66811517	0.88[ASN][1000 genomes]
rs670541	0.85[ASN][1000 genomes]
rs675718	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs676632	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67691679	0.83[ASN][1000 genomes]
rs67739439	0.82[ASN][1000 genomes]
rs67881993	0.88[ASN][1000 genomes]
rs71454676	0.85[ASN][1000 genomes]
rs71454679	0.83[ASN][1000 genomes]
rs71454680	0.83[ASN][1000 genomes]
rs73216114	0.85[ASN][1000 genomes]
rs73218241	0.83[ASN][1000 genomes]
rs934353	0.85[ASN][1000 genomes]
rs934354	0.88[ASN][1000 genomes]
rs934355	0.94[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	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv899559	chr12:121324727-121592689	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv899560	chr12:121371233-121560581	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv899562	chr12:121376416-121565870	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	esv2758318	chr12:121415845-121584813	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	esv2759917	chr12:121415845-121584813	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv832531	chr12:121440495-121604232	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv560454	chr12:121457073-121745742	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
9	nsv430537	chr12:121487632-121579955	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv1054878	chr12:121519880-121761800	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
11	nsv455729	chr12:121525591-121761800	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
12	nsv560455	chr12:121525591-121761800	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
13	nsv899563	chr12:121543011-121600529	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv1050519	chr12:121552964-121756420	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121552400-121560800	Weak transcription	K562	blood
2	chr12:121552600-121557800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr12:121554200-121555800	Enhancers	HepG2	liver
4	chr12:121554400-121555600	Enhancers	Pancreas	Pancrea
5	chr12:121555400-121555800	Enhancers	Liver	Liver
6	chr12:121555400-121557200	Weak transcription	Spleen	Spleen
7	chr12:121555400-121565800	Weak transcription	Gastric	stomach

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