Variant report

Variant	rs55984325
Chromosome Location	chr12:50321745-50321746
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:50281697..50283308-chr12:50320194..50322369,2	MCF-7	breast:
2	chr12:50315834..50318795-chr12:50320969..50322801,2	K562	blood:

Variant related genes	Relation type
ENSG00000257771	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12312614	0.91[EUR][1000 genomes]
rs12422575	0.91[EUR][1000 genomes]
rs12424035	0.91[EUR][1000 genomes]
rs12424404	0.91[EUR][1000 genomes]
rs12426614	0.91[EUR][1000 genomes]
rs12426750	0.91[EUR][1000 genomes]
rs12427024	0.91[EUR][1000 genomes]
rs12427051	0.91[EUR][1000 genomes]
rs17124131	0.91[EUR][1000 genomes]
rs2276187	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2276188	0.94[ASN][1000 genomes]
rs2298640	0.91[EUR][1000 genomes]
rs2298641	0.91[EUR][1000 genomes]
rs297939	0.83[ASN][1000 genomes]
rs58494052	0.91[EUR][1000 genomes]
rs59862432	0.91[EUR][1000 genomes]
rs61416142	0.91[EUR][1000 genomes]
rs72644872	0.91[EUR][1000 genomes]
rs72644873	0.91[EUR][1000 genomes]
rs72644874	0.91[EUR][1000 genomes]
rs72644875	0.91[EUR][1000 genomes]
rs72644876	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
3	nsv522972	chr12:50196394-50410831	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv530671	chr12:50233858-50708991	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
5	nsv832407	chr12:50243268-50412236	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv558835	chr12:50275137-50433234	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50314800-50325000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:50316600-50333200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr12:50318800-50326600	Weak transcription	Right Atrium	heart
4	chr12:50319400-50323000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:50319600-50323200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr12:50319800-50325200	Weak transcription	Spleen	Spleen
7	chr12:50320000-50323800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:50321600-50324000	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr12:50321600-50328800	Enhancers	Hela-S3	cervix

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