Variant report

Variant	rs1278947
Chromosome Location	chr14:32420322-32420323
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:32418462..32421329-chr14:32545887..32548430,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258655	Chromatin interaction
ENSG00000100852	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs4981935	1.00[JPT][hapmap]

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	nsv564182	chr14:32110519-32584337	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1046526	chr14:32110537-32567426	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv526200	chr14:32308511-32454372	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv519032	chr14:32420188-32420322	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:32413400-32420800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr14:32413600-32420600	Enhancers	HMEC	breast
3	chr14:32413800-32420800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr14:32416800-32420600	Enhancers	NHEK	skin
5	chr14:32418400-32420800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr14:32418400-32422000	Enhancers	Placenta	Placenta
7	chr14:32418600-32420800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr14:32418600-32420800	Enhancers	Placenta Amnion	Placenta Amnion
9	chr14:32418600-32420800	Enhancers	NHDF-Ad	bronchial
10	chr14:32418800-32420600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr14:32418800-32420600	Flanking Active TSS	A549	lung
12	chr14:32418800-32420800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr14:32418800-32421000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr14:32418800-32421000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr14:32418800-32421000	Enhancers	HSMMtube	muscle
16	chr14:32418800-32421200	Enhancers	Fetal Intestine Large	intestine
17	chr14:32418800-32421400	Enhancers	Stomach Mucosa	stomach
18	chr14:32418800-32422000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr14:32418800-32422000	Enhancers	Fetal Stomach	stomach
20	chr14:32418800-32422400	Enhancers	K562	blood
21	chr14:32418800-32423600	Enhancers	Fetal Lung	lung
22	chr14:32419000-32420600	Enhancers	Muscle Satellite Cultured Cells	--
23	chr14:32419000-32420800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr14:32419000-32421000	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr14:32419000-32421000	Enhancers	Fetal Intestine Small	intestine
26	chr14:32419000-32421000	Enhancers	NHLF	lung
27	chr14:32419000-32421200	Enhancers	Fetal Brain Male	brain
28	chr14:32419000-32421400	Enhancers	Fetal Heart	heart
29	chr14:32419200-32420800	Enhancers	HSMM	muscle
30	chr14:32419200-32421000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr14:32419200-32421000	Enhancers	Duodenum Mucosa	Duodenum
32	chr14:32419400-32420600	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr14:32419400-32421000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr14:32419400-32421000	Enhancers	Brain Germinal Matrix	brain
35	chr14:32419400-32421000	Enhancers	Fetal Muscle Leg	muscle
36	chr14:32419400-32421200	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr14:32419400-32421200	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr14:32419400-32429000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr14:32419600-32420400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr14:32419600-32420600	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr14:32419600-32420600	Enhancers	Colonic Mucosa	Colon
42	chr14:32419600-32420600	Enhancers	Small Intestine	intestine
43	chr14:32419600-32420600	Flanking Active TSS	Hela-S3	cervix
44	chr14:32419600-32420800	Enhancers	Colon Smooth Muscle	Colon
45	chr14:32419600-32420800	Bivalent Enhancer	HepG2	liver
46	chr14:32419600-32420800	Enhancers	NH-A	brain
47	chr14:32419600-32421000	Enhancers	H9 Cell Line	embryonic stem cell
48	chr14:32419600-32421000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr14:32419600-32421000	Enhancers	Adipose Nuclei	Adipose
50	chr14:32419600-32421000	Enhancers	Left Ventricle	heart

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