Variant report

Variant	rs12586592
Chromosome Location	chr14:69285525-69285526
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:68773035..68775365-chr14:69282821..69285727,2	MCF-7	breast:
2	chr14:68930789..68933510-chr14:69282666..69285541,2	MCF-7	breast:
3	chr14:68842793..68845023-chr14:69283063..69285593,2	K562	blood:
4	chr14:68712832..68721681-chr14:69280637..69286048,12	MCF-7	breast:
5	chr14:68657723..68660507-chr14:69282289..69285612,3	MCF-7	breast:
6	chr14:68774488..68779341-chr14:69281641..69286880,6	MCF-7	breast:
7	chr14:69283985..69288405-chr14:69289661..69293345,5	K562	blood:
8	chr14:68406502..68410391-chr14:69284099..69289375,6	MCF-7	breast:
9	chr14:69270505..69278428-chr14:69279681..69285729,13	K562	blood:
10	chr14:69282246..69286226-chr14:69289725..69291481,3	MCF-7	breast:
11	chr14:69284387..69286906-chr14:69288096..69291991,4	K562	blood:
12	chr14:68406192..68411564-chr14:69279428..69286293,11	MCF-7	breast:

No data

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12586653	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12589096	1.00[ASN][1000 genomes]
rs17106298	1.00[ASN][1000 genomes]
rs17106303	1.00[ASN][1000 genomes]
rs194738	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	nsv1035267	chr14:69230254-69348126	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv542123	chr14:69230254-69348126	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	nsv902070	chr14:69244214-69308182	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69276600-69286200	Weak transcription	Ovary	ovary
2	chr14:69282800-69286400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:69282800-69286600	Weak transcription	Fetal Kidney	kidney
4	chr14:69283000-69287200	Enhancers	Fetal Stomach	stomach
5	chr14:69283400-69286400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr14:69283600-69286400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr14:69283600-69289600	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr14:69283800-69285800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr14:69283800-69286000	Weak transcription	K562	blood
10	chr14:69283800-69286200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr14:69283800-69286200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr14:69283800-69286200	Weak transcription	HMEC	breast
13	chr14:69283800-69286400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr14:69283800-69286400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr14:69283800-69289400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr14:69283800-69289600	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr14:69283800-69291200	Weak transcription	Brain Germinal Matrix	brain
18	chr14:69284000-69285800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr14:69284000-69285800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr14:69284000-69285800	Weak transcription	Fetal Intestine Large	intestine
21	chr14:69284000-69285800	Weak transcription	Placenta	Placenta
22	chr14:69284000-69285800	Weak transcription	NH-A	brain
23	chr14:69284000-69286000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr14:69284000-69286000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr14:69284000-69286000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr14:69284000-69286000	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr14:69284000-69286000	Enhancers	HepG2	liver
28	chr14:69284000-69286200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr14:69284000-69286200	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr14:69284000-69286200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr14:69284000-69286200	Weak transcription	Lung	lung
32	chr14:69284000-69286200	Weak transcription	Thymus	Thymus
33	chr14:69284000-69286400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr14:69284000-69286400	Enhancers	Liver	Liver
35	chr14:69284000-69286400	Weak transcription	Fetal Heart	heart
36	chr14:69284000-69286400	Weak transcription	NHLF	lung
37	chr14:69284000-69287000	Enhancers	Rectal Smooth Muscle	rectum
38	chr14:69284000-69287000	Weak transcription	Dnd41	blood
39	chr14:69284000-69289600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr14:69284000-69291200	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr14:69284000-69291200	Weak transcription	Right Atrium	heart
42	chr14:69284000-69291400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr14:69284000-69291400	Weak transcription	HSMM	muscle
44	chr14:69284000-69300200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr14:69284200-69285600	Enhancers	GM12878-XiMat	blood
46	chr14:69284200-69285800	Weak transcription	Primary hematopoietic stem cells	blood
47	chr14:69284200-69285800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr14:69284200-69285800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr14:69284200-69286000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr14:69284200-69286000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links