Variant report

Variant	rs1278943
Chromosome Location	chr14:32419548-32419549
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:32415369..32417109-chr14:32417144..32419896,2	MCF-7	breast:
2	chr14:32412347..32415225-chr14:32417011..32419996,3	MCF-7	breast:
3	chr14:32418462..32421329-chr14:32545887..32548430,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100852	Chromatin interaction
ENSG00000258474	Chromatin interaction
ENSG00000258655	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1278931	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1278933	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1278934	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1278935	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1278936	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1278937	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1278938	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1278939	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1278940	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1278941	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1278942	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1756720	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1761072	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1761076	0.97[ASN][1000 genomes]
rs2236532	0.90[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	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

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:32407400-32419800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr14:32412400-32419600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:32412800-32419800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr14:32413000-32419600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr14:32413400-32420800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr14:32413600-32420600	Enhancers	HMEC	breast
7	chr14:32413800-32420800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr14:32414600-32419600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr14:32414600-32419600	Weak transcription	Adipose Nuclei	Adipose
10	chr14:32414600-32419600	Weak transcription	Fetal Muscle Trunk	muscle
11	chr14:32414600-32419600	Weak transcription	Left Ventricle	heart
12	chr14:32414600-32419600	Weak transcription	Right Atrium	heart
13	chr14:32414600-32419800	Weak transcription	Gastric	stomach
14	chr14:32414600-32419800	Weak transcription	Lung	lung
15	chr14:32414600-32419800	Weak transcription	Psoas Muscle	Psoas
16	chr14:32414600-32420000	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr14:32414800-32420000	Weak transcription	Pancreas	Pancrea
18	chr14:32415200-32419600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr14:32415600-32419600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr14:32415800-32419800	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr14:32416800-32420600	Enhancers	NHEK	skin
22	chr14:32417600-32419800	Weak transcription	Right Ventricle	heart
23	chr14:32418400-32420800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr14:32418400-32422000	Enhancers	Placenta	Placenta
25	chr14:32418600-32419600	Enhancers	Hela-S3	cervix
26	chr14:32418600-32420800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr14:32418600-32420800	Enhancers	Placenta Amnion	Placenta Amnion
28	chr14:32418600-32420800	Enhancers	NHDF-Ad	bronchial
29	chr14:32418800-32420000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr14:32418800-32420600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr14:32418800-32420600	Flanking Active TSS	A549	lung
32	chr14:32418800-32420800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr14:32418800-32421000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr14:32418800-32421000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr14:32418800-32421000	Enhancers	HSMMtube	muscle
36	chr14:32418800-32421200	Enhancers	Fetal Intestine Large	intestine
37	chr14:32418800-32421400	Enhancers	Stomach Mucosa	stomach
38	chr14:32418800-32422000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr14:32418800-32422000	Enhancers	Fetal Stomach	stomach
40	chr14:32418800-32422400	Enhancers	K562	blood
41	chr14:32418800-32423600	Enhancers	Fetal Lung	lung
42	chr14:32419000-32419600	Weak transcription	NH-A	brain
43	chr14:32419000-32420000	Enhancers	Fetal Kidney	kidney
44	chr14:32419000-32420000	Enhancers	HUVEC	blood vessel
45	chr14:32419000-32420600	Enhancers	Muscle Satellite Cultured Cells	--
46	chr14:32419000-32420800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr14:32419000-32421000	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr14:32419000-32421000	Enhancers	Fetal Intestine Small	intestine
49	chr14:32419000-32421000	Enhancers	NHLF	lung
50	chr14:32419000-32421200	Enhancers	Fetal Brain Male	brain

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