Variant report

Variant	rs1278931
Chromosome Location	chr14:32416369-32416370
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	chr14:32414286..32416412-chr14:32544564..32547544,2	MCF-7	breast:
2	chr14:32415369..32417109-chr14:32417144..32419896,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258655	Chromatin interaction
ENSG00000100852	Chromatin interaction

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

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

rs_ID	r²[population]
rs1278933	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1278934	0.96[CHB][hapmap];0.96[JPT][hapmap];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1278935	0.91[CHB][hapmap];0.91[JPT][hapmap];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1278936	0.84[CEU][hapmap];0.96[CHB][hapmap];0.96[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1278937	0.96[CHB][hapmap];0.96[JPT][hapmap];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1278938	0.96[CHB][hapmap];0.95[JPT][hapmap];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1278939	0.84[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1278940	0.84[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1278941	0.84[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1278942	0.84[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1278943	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1756720	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1761072	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1761076	0.94[ASN][1000 genomes]
rs2236532	0.91[CHB][hapmap];0.91[JPT][hapmap];0.82[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:63 , 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	chr14:32412200-32418600	Weak transcription	NHDF-Ad	bronchial
3	chr14:32412400-32419600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:32412800-32416800	Enhancers	Primary T cells fromperipheralblood	blood
5	chr14:32412800-32417400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr14:32412800-32417400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr14:32412800-32419800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr14:32413000-32416400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr14:32413000-32419000	Weak transcription	Small Intestine	intestine
10	chr14:32413000-32419600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr14:32413400-32418000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr14:32413400-32420800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr14:32413600-32418000	Enhancers	Placenta	Placenta
14	chr14:32413600-32420600	Enhancers	HMEC	breast
15	chr14:32413800-32417600	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr14:32413800-32418800	Weak transcription	Fetal Lung	lung
17	chr14:32413800-32420800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr14:32414000-32419000	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr14:32414200-32419200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr14:32414400-32417200	Weak transcription	Right Ventricle	heart
21	chr14:32414400-32417400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr14:32414400-32417400	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr14:32414400-32417600	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr14:32414400-32419400	Weak transcription	Brain Germinal Matrix	brain
25	chr14:32414600-32416600	Weak transcription	K562	blood
26	chr14:32414600-32417000	Enhancers	HepG2	liver
27	chr14:32414600-32417200	Weak transcription	Fetal Brain Female	brain
28	chr14:32414600-32417800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr14:32414600-32418800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr14:32414600-32419400	Weak transcription	Fetal Muscle Leg	muscle
31	chr14:32414600-32419600	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr14:32414600-32419600	Weak transcription	Adipose Nuclei	Adipose
33	chr14:32414600-32419600	Weak transcription	Fetal Muscle Trunk	muscle
34	chr14:32414600-32419600	Weak transcription	Left Ventricle	heart
35	chr14:32414600-32419600	Weak transcription	Right Atrium	heart
36	chr14:32414600-32419800	Weak transcription	Gastric	stomach
37	chr14:32414600-32419800	Weak transcription	Lung	lung
38	chr14:32414600-32419800	Weak transcription	Psoas Muscle	Psoas
39	chr14:32414600-32420000	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr14:32414800-32416600	Enhancers	Fetal Intestine Large	intestine
41	chr14:32414800-32416600	Enhancers	Fetal Intestine Small	intestine
42	chr14:32414800-32417200	Weak transcription	Fetal Brain Male	brain
43	chr14:32414800-32417400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr14:32414800-32420000	Weak transcription	Pancreas	Pancrea
45	chr14:32415200-32416400	Weak transcription	Primary T cells from cord blood	blood
46	chr14:32415200-32418600	Weak transcription	Hela-S3	cervix
47	chr14:32415200-32419600	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr14:32415400-32416400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr14:32415400-32417000	Weak transcription	Primary B cells from peripheral blood	blood
50	chr14:32415400-32419000	Weak transcription	Sigmoid Colon	Sigmoid Colon

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