Variant report

Variant	rs1882487
Chromosome Location	chr12:124392266-124392267
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:124389950..124393053-chr12:124455413..124457949,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000270095	Chromatin interaction
ENSG00000178882	Chromatin interaction
ENSG00000119242	Chromatin interaction
ENSG00000179195	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs59492575	1.00[AMR][1000 genomes]
rs7296574	1.00[AMR][1000 genomes]
rs7980102	1.00[AMR][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	nsv498024	chr12:123994372-124459856	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv1811815	chr12:124374716-124424636	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers 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	10 gene(s)	inside rSNPs	diseases
3	esv1832870	chr12:124374716-124424636	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS 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	10 gene(s)	inside rSNPs	diseases
4	nsv522321	chr12:124383950-124424636	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS 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	9 gene(s)	inside rSNPs	diseases
5	nsv560499	chr12:124389150-124396816	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124384000-124408400	Weak transcription	Fetal Brain Female	brain
2	chr12:124386000-124395800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr12:124386200-124394000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:124390200-124397600	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr12:124390400-124392400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr12:124390800-124394400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:124391400-124392600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:124391400-124392800	Enhancers	Fetal Lung	lung
9	chr12:124391400-124393000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:124391400-124393000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr12:124391400-124393600	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr12:124391600-124392600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr12:124391600-124392600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:124391600-124392800	Enhancers	Fetal Stomach	stomach
15	chr12:124391600-124393000	Enhancers	Right Ventricle	heart
16	chr12:124391600-124393200	Enhancers	Fetal Heart	heart
17	chr12:124391600-124394000	Enhancers	Placenta	Placenta
18	chr12:124391600-124395000	Enhancers	Fetal Muscle Leg	muscle
19	chr12:124391800-124392400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr12:124391800-124392800	Flanking Active TSS	HepG2	liver
21	chr12:124391800-124393000	Enhancers	HMEC	breast
22	chr12:124391800-124393800	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr12:124392000-124392400	Enhancers	Fetal Intestine Small	intestine
24	chr12:124392000-124392600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr12:124392000-124392600	Enhancers	Fetal Thymus	thymus
26	chr12:124392000-124392600	Bivalent Enhancer	K562	blood
27	chr12:124392000-124392600	Enhancers	NH-A	brain
28	chr12:124392000-124393400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr12:124392000-124393800	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr12:124392000-124393800	Enhancers	Brain Substantia Nigra	brain
31	chr12:124392000-124394200	Enhancers	Brain Cingulate Gyrus	brain
32	chr12:124392200-124392400	Enhancers	Brain Anterior Caudate	brain
33	chr12:124392200-124392600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr12:124392200-124392600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr12:124392200-124392600	Enhancers	Brain Hippocampus Middle	brain
36	chr12:124392200-124392600	Enhancers	NHDF-Ad	bronchial
37	chr12:124392200-124392800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr12:124392200-124392800	Enhancers	NHEK	skin
39	chr12:124392200-124393000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr12:124392200-124393200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr12:124392200-124394000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
42	chr12:124392200-124394400	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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