Variant report

Variant	rs12878947
Chromosome Location	chr14:70446421-70446422
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:70430216..70432462-chr14:70446233..70448527,2	MCF-7	breast:
2	chr14:70439245..70443194-chr14:70444532..70447798,3	MCF-7	breast:
3	chr14:70445195..70447002-chr14:70460330..70462165,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198732	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10134291	0.81[ASN][1000 genomes]
rs10134965	0.81[ASN][1000 genomes]
rs12050089	0.81[ASN][1000 genomes]
rs12101270	0.82[ASN][1000 genomes]
rs12885068	0.81[ASN][1000 genomes]
rs12885683	0.81[ASN][1000 genomes]
rs12887943	0.82[ASN][1000 genomes]
rs12889195	0.81[ASN][1000 genomes]
rs1459704	0.81[ASN][1000 genomes]
rs17107547	0.90[ASN][1000 genomes]
rs227437	0.90[ASN][1000 genomes]
rs34311408	0.81[ASN][1000 genomes]
rs3825739	0.81[ASN][1000 genomes]
rs56242824	0.81[ASN][1000 genomes]
rs57609901	0.81[ASN][1000 genomes]
rs67294558	0.90[ASN][1000 genomes]
rs8015491	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70418800-70448600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr14:70429800-70450000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr14:70430400-70447000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr14:70433200-70454000	Strong transcription	Liver	Liver
5	chr14:70435400-70447000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr14:70437600-70447000	Strong transcription	Hela-S3	cervix
7	chr14:70439000-70458800	Weak transcription	Gastric	stomach
8	chr14:70439600-70447000	Weak transcription	Fetal Intestine Small	intestine
9	chr14:70439800-70477200	Weak transcription	Spleen	Spleen
10	chr14:70441000-70446600	Strong transcription	HepG2	liver
11	chr14:70441000-70447400	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr14:70441200-70448600	Weak transcription	Right Atrium	heart
13	chr14:70441400-70451800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr14:70442200-70451800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr14:70442400-70446800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr14:70442400-70446800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr14:70443800-70446800	Weak transcription	Pancreas	Pancrea
18	chr14:70443800-70447200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr14:70444000-70446600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:70444200-70448400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr14:70444600-70449000	Weak transcription	Fetal Brain Male	brain
22	chr14:70444800-70447200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr14:70445600-70447200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr14:70445600-70447200	Enhancers	Brain Substantia Nigra	brain
25	chr14:70445600-70449800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr14:70445600-70450600	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr14:70445800-70447000	Weak transcription	Fetal Muscle Trunk	muscle
28	chr14:70445800-70448400	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr14:70445800-70450400	Genic enhancers	Cortex derived primary cultured neurospheres	brain
30	chr14:70446000-70446800	Enhancers	Brain Angular Gyrus	brain
31	chr14:70446000-70447000	Weak transcription	Brain Germinal Matrix	brain
32	chr14:70446000-70447400	Enhancers	Brain Cingulate Gyrus	brain
33	chr14:70446000-70449400	Enhancers	Fetal Intestine Large	intestine
34	chr14:70446000-70449600	Weak transcription	Fetal Brain Female	brain
35	chr14:70446200-70446600	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr14:70446200-70447000	Enhancers	Brain Hippocampus Middle	brain
37	chr14:70446200-70449800	Enhancers	HMEC	breast
38	chr14:70446400-70447000	Enhancers	Brain Anterior Caudate	brain
39	chr14:70446400-70448000	Enhancers	Fetal Muscle Leg	muscle
40	chr14:70446400-70449600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr14:70446400-70449600	Enhancers	NHEK	skin
42	chr14:70446400-70449800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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