Variant report

Variant	rs74085421
Chromosome Location	chr12:46902755-46902756
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:46885974..46889693-chr12:46900997..46904051,5	MCF-7	breast:
2	chr12:46887424..46888215-chr12:46902716..46903433,2	MCF-7	breast:
3	chr12:46759096..46760660-chr12:46901323..46903298,2	MCF-7	breast:
4	chr12:46845917..46847463-chr12:46900708..46902756,2	MCF-7	breast:
5	chr12:46897498..46899915-chr12:46900125..46903070,2	MCF-7	breast:
6	chr12:46887256..46887957-chr12:46902430..46903253,3	MCF-7	breast:
7	chr12:46780011..46782697-chr12:46900139..46902948,3	MCF-7	breast:
8	chr12:46886050..46886867-chr12:46902675..46903414,2	MCF-7	breast:
9	chr12:46901974..46903711-chr12:47058185..47060406,2	MCF-7	breast:
10	chr12:46835195..46837772-chr12:46901174..46903724,2	MCF-7	breast:
11	chr12:46765138..46767607-chr12:46901878..46904336,2	K562	blood:
12	chr12:46762419..46768660-chr12:46899477..46903825,13	MCF-7	breast:
13	chr12:46895836..46897418-chr12:46900604..46903513,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000257496	Chromatin interaction
ENSG00000258096	Chromatin interaction
ENSG00000134294	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11183500	1.00[EUR][1000 genomes]
rs11183510	1.00[EUR][1000 genomes]
rs11183512	1.00[EUR][1000 genomes]
rs11183513	1.00[EUR][1000 genomes]
rs11830080	1.00[AMR][1000 genomes]
rs11830086	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11834444	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11837634	1.00[AMR][1000 genomes]
rs12296783	1.00[EUR][1000 genomes]
rs12317179	1.00[EUR][1000 genomes]
rs12321960	1.00[EUR][1000 genomes]
rs17096996	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2408578	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34098443	1.00[EUR][1000 genomes]
rs3935048	1.00[EUR][1000 genomes]
rs55649919	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55698768	1.00[AMR][1000 genomes]
rs56160202	1.00[AMR][1000 genomes]
rs59451063	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60325164	1.00[AMR][1000 genomes]
rs60876255	1.00[EUR][1000 genomes]
rs61351787	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7136748	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74082237	1.00[AMR][1000 genomes]
rs74082263	1.00[AMR][1000 genomes]
rs74082274	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74082433	1.00[AMR][1000 genomes]
rs74082454	1.00[AMR][1000 genomes]
rs74083751	1.00[AMR][1000 genomes]
rs74083758	1.00[AMR][1000 genomes]
rs74084124	1.00[AMR][1000 genomes]
rs74085404	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74085432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74085442	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74085444	1.00[EUR][1000 genomes]
rs74085447	1.00[EUR][1000 genomes]
rs7975472	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7980023	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1842882	chr12:46691487-47009428	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
2	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
3	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
4	esv3429861	chr12:46762813-46988789	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	145 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	chr12:46888600-46909200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:46893400-46911600	Weak transcription	Osteobl	bone
3	chr12:46901200-46902800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr12:46901200-46903200	Enhancers	Hela-S3	cervix
5	chr12:46901200-46903600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr12:46902200-46908800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr12:46902400-46903800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:46902400-46903800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:46902600-46903200	Strong transcription	NHEK	skin

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