Variant report

Variant	rs12436175
Chromosome Location	chr14:70488881-70488882
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	chr14:70487128..70490716-chr14:70493782..70497437,5	MCF-7	breast:
2	chr14:70359306..70362202-chr14:70488294..70490499,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1005543	0.97[ASN][1000 genomes]
rs17107635	0.85[EUR][1000 genomes]
rs17107637	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1998334	0.80[ASN][1000 genomes]
rs2281663	0.98[ASN][1000 genomes]
rs59662605	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60011612	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72728002	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72729803	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72729808	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8010305	0.91[ASN][1000 genomes]
rs8016522	0.97[ASN][1000 genomes]
rs8019103	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	nsv832824	chr14:70320639-70511401	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70476000-70500000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr14:70476200-70490600	Weak transcription	Fetal Brain Male	brain
3	chr14:70476200-70499000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:70485000-70493200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr14:70485600-70491600	Weak transcription	Fetal Brain Female	brain
6	chr14:70485800-70489000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr14:70485800-70493000	Strong transcription	Cortex derived primary cultured neurospheres	brain
8	chr14:70485800-70495600	Weak transcription	Right Atrium	heart
9	chr14:70485800-70497600	Strong transcription	Hela-S3	cervix
10	chr14:70485800-70498400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr14:70486000-70496200	Weak transcription	Pancreas	Pancrea
12	chr14:70486000-70500400	Weak transcription	Aorta	Aorta
13	chr14:70486200-70489000	Weak transcription	NHEK	skin
14	chr14:70486400-70489000	Weak transcription	HMEC	breast
15	chr14:70486400-70490000	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr14:70486400-70491600	Weak transcription	Spleen	Spleen
17	chr14:70486400-70491800	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr14:70486400-70502800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr14:70486600-70498200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr14:70487000-70494400	Strong transcription	Liver	Liver
21	chr14:70487400-70489200	Enhancers	Adipose Nuclei	Adipose
22	chr14:70487600-70489400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr14:70487800-70489200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr14:70487800-70491800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr14:70487800-70494200	Weak transcription	Fetal Stomach	stomach
26	chr14:70487800-70498400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr14:70488000-70489000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr14:70488000-70489600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr14:70488000-70498600	Weak transcription	Gastric	stomach
30	chr14:70488200-70491000	Strong transcription	Brain Germinal Matrix	brain
31	chr14:70488200-70493800	Strong transcription	HepG2	liver
32	chr14:70488200-70494200	Weak transcription	Brain Substantia Nigra	brain
33	chr14:70488200-70494400	Weak transcription	Brain Hippocampus Middle	brain
34	chr14:70488400-70489400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr14:70488400-70492400	Weak transcription	Brain Cingulate Gyrus	brain
36	chr14:70488600-70490200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr14:70488800-70493200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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