Variant report

Variant	rs194745
Chromosome Location	chr14:69285136-69285137
allele	C/G
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:68773035..68775365-chr14:69282821..69285727,2	MCF-7	breast:
2	chr11:65623915..65626404-chr14:69283318..69285149,2	MCF-7	breast:
3	chr14:68930789..68933510-chr14:69282666..69285541,2	MCF-7	breast:
4	chr14:68842793..68845023-chr14:69283063..69285593,2	K562	blood:
5	chr14:68712832..68721681-chr14:69280637..69286048,12	MCF-7	breast:
6	chr14:68657723..68660507-chr14:69282289..69285612,3	MCF-7	breast:
7	chr14:68774488..68779341-chr14:69281641..69286880,6	MCF-7	breast:
8	chr14:69283985..69288405-chr14:69289661..69293345,5	K562	blood:
9	chr14:68406502..68410391-chr14:69284099..69289375,6	MCF-7	breast:
10	chr14:69270505..69278428-chr14:69279681..69285729,13	K562	blood:
11	chr14:69282246..69286226-chr14:69289725..69291481,3	MCF-7	breast:
12	chr14:69284387..69286906-chr14:69288096..69291991,4	K562	blood:
13	chr14:68406192..68411564-chr14:69279428..69286293,11	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000172732	Chromatin interaction
ENSG00000172757	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10139199	0.89[YRI][hapmap]
rs11847206	1.00[EUR][1000 genomes]
rs1274955	0.90[AFR][1000 genomes]
rs194732	0.82[YRI][hapmap]
rs194738	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs194742	0.95[AFR][1000 genomes]
rs194743	0.88[AFR][1000 genomes]
rs4899260	0.89[YRI][hapmap]
rs55753128	1.00[EUR][1000 genomes]
rs59647223	1.00[EUR][1000 genomes]
rs73281012	1.00[EUR][1000 genomes]
rs8008250	1.00[EUR][1000 genomes]
rs9743642	1.00[EUR][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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs194745	Hs.304334	cis	multi-tissue	Pritchard

Chromatin state (count:97 , 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	chr14:69283400-69285400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr14:69283400-69286400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr14:69283600-69286400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr14:69283600-69289600	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr14:69283800-69285200	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr14:69283800-69285200	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr14:69283800-69285400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr14:69283800-69285400	Enhancers	A549	lung
13	chr14:69283800-69285400	Enhancers	Hela-S3	cervix
14	chr14:69283800-69285800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr14:69283800-69286000	Weak transcription	K562	blood
16	chr14:69283800-69286200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr14:69283800-69286200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr14:69283800-69286200	Weak transcription	HMEC	breast
19	chr14:69283800-69286400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr14:69283800-69286400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr14:69283800-69289400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr14:69283800-69289600	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr14:69283800-69291200	Weak transcription	Brain Germinal Matrix	brain
24	chr14:69284000-69285400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr14:69284000-69285400	Weak transcription	Fetal Intestine Small	intestine
26	chr14:69284000-69285400	Weak transcription	NHDF-Ad	bronchial
27	chr14:69284000-69285400	Weak transcription	NHEK	skin
28	chr14:69284000-69285800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr14:69284000-69285800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr14:69284000-69285800	Weak transcription	Fetal Intestine Large	intestine
31	chr14:69284000-69285800	Weak transcription	Placenta	Placenta
32	chr14:69284000-69285800	Weak transcription	NH-A	brain
33	chr14:69284000-69286000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr14:69284000-69286000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr14:69284000-69286000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr14:69284000-69286000	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr14:69284000-69286000	Enhancers	HepG2	liver
38	chr14:69284000-69286200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr14:69284000-69286200	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr14:69284000-69286200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr14:69284000-69286200	Weak transcription	Lung	lung
42	chr14:69284000-69286200	Weak transcription	Thymus	Thymus
43	chr14:69284000-69286400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr14:69284000-69286400	Enhancers	Liver	Liver
45	chr14:69284000-69286400	Weak transcription	Fetal Heart	heart
46	chr14:69284000-69286400	Weak transcription	NHLF	lung
47	chr14:69284000-69287000	Enhancers	Rectal Smooth Muscle	rectum
48	chr14:69284000-69287000	Weak transcription	Dnd41	blood
49	chr14:69284000-69289600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr14:69284000-69291200	Weak transcription	Muscle Satellite Cultured Cells	--

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