Variant report

Variant	rs547050146
Chromosome Location	chr14:69330114-69330115
allele	G/T
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:69330048..69330654-chr14:69573975..69574613,3	MCF-7	breast:
2	chr14:69329871..69332801-chr14:69360773..69363561,2	MCF-7	breast:
3	chr14:69329912..69330674-chr14:69556659..69557561,2	MCF-7	breast:
4	chr14:69329644..69330252-chr14:69557067..69557578,2	MCF-7	breast:
5	chr14:69329747..69330587-chr14:69556670..69557251,2	K562	blood:
6	chr14:69329657..69330621-chr14:69573875..69574825,6	K562	blood:
7	chr14:69329812..69331555-chr14:69556654..69558817,2	MCF-7	breast:
8	chr14:69320313..69321172-chr14:69330016..69330572,2	MCF-7	breast:
9	chr14:69329734..69330494-chr14:69567678..69568621,2	MCF-7	breast:
10	chr14:69329739..69330530-chr14:69829017..69829987,2	K562	blood:
11	chr14:69328564..69331067-chr14:69432444..69435410,2	MCF-7	breast:

No data

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	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	nsv902073	chr14:69288432-69331065	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv518793	chr14:69329149-69331653	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69306400-69331200	Weak transcription	Aorta	Aorta
2	chr14:69307800-69331000	Weak transcription	HSMMtube	muscle
3	chr14:69310800-69331000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr14:69310800-69332200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr14:69310800-69332200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr14:69310800-69336400	Weak transcription	NHLF	lung
7	chr14:69310800-69339800	Weak transcription	Right Ventricle	heart
8	chr14:69311000-69331000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr14:69312000-69332000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr14:69320000-69331000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr14:69320600-69334400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr14:69320800-69332200	Weak transcription	NHEK	skin
13	chr14:69321200-69332200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr14:69321200-69338000	Weak transcription	Gastric	stomach
15	chr14:69321400-69330800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr14:69322400-69331000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr14:69322400-69336600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr14:69322600-69330800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr14:69322600-69331200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr14:69323400-69331200	Weak transcription	Fetal Stomach	stomach
21	chr14:69323800-69337800	Weak transcription	Stomach Smooth Muscle	stomach
22	chr14:69324800-69338600	Weak transcription	HepG2	liver
23	chr14:69325000-69331200	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr14:69325200-69331000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr14:69327600-69332200	Weak transcription	Liver	Liver
26	chr14:69327800-69331000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr14:69328000-69334000	Weak transcription	NH-A	brain
28	chr14:69328200-69336600	Weak transcription	HMEC	breast
29	chr14:69328600-69331200	Weak transcription	Osteobl	bone
30	chr14:69328800-69336200	Weak transcription	HSMM	muscle
31	chr14:69329600-69330200	Enhancers	Placenta	Placenta
32	chr14:69329600-69330200	Enhancers	Hela-S3	cervix
33	chr14:69329600-69332400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr14:69329600-69338200	Weak transcription	Pancreas	Pancrea
35	chr14:69329800-69330200	Enhancers	K562	blood
36	chr14:69329800-69331600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr14:69330000-69330200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr14:69330000-69330200	Enhancers	HUVEC	blood vessel
39	chr14:69330000-69332000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr14:69330000-69332200	Weak transcription	A549	lung
41	chr14:69330000-69338400	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr14:69330000-69351000	Weak transcription	Fetal Heart	heart

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