Variant report

Variant	rs34778442
Chromosome Location	chr12:47484308-47484309
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:47482017..47484869-chr12:47577202..47579139,2	MCF-7	breast:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11183675	1.00[AFR][1000 genomes]
rs12818291	1.00[AFR][1000 genomes]
rs12823818	1.00[AFR][1000 genomes]
rs17097420	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469368	chr12:47374908-47675680	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv558784	chr12:47374908-47675680	Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47474800-47493200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:47480000-47488600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr12:47480200-47501800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr12:47480600-47486200	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr12:47480600-47487000	Weak transcription	Primary T cells from cord blood	blood
6	chr12:47481200-47487200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr12:47482200-47489000	Weak transcription	Hela-S3	cervix
8	chr12:47482200-47489600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr12:47482600-47489800	Weak transcription	Ovary	ovary
10	chr12:47482600-47490200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr12:47483000-47487600	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr12:47483000-47487600	Weak transcription	NH-A	brain
13	chr12:47483000-47488000	Weak transcription	Osteobl	bone
14	chr12:47483000-47488800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:47483000-47489400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr12:47483000-47490800	Weak transcription	Stomach Smooth Muscle	stomach
17	chr12:47483200-47497000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:47483400-47484400	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr12:47483400-47485000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr12:47483400-47485600	ZNF genes & repeats	A549	lung
21	chr12:47483400-47485600	ZNF genes & repeats	NHEK	skin
22	chr12:47483800-47484400	Weak transcription	Aorta	Aorta
23	chr12:47483800-47484400	Enhancers	Colon Smooth Muscle	Colon
24	chr12:47483800-47485000	ZNF genes & repeats	HSMM	muscle
25	chr12:47484000-47485000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr12:47484000-47485800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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