Variant report

Variant	rs542050830
Chromosome Location	chr5:14225691-14225692
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:14224670..14226292-chr5:14228930..14231358,2	MCF-7	breast:
2	chr5:14220578..14224492-chr5:14225553..14229108,5	MCF-7	breast:
3	chr5:14143292..14147216-chr5:14223184..14226021,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000038382	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534466	chr5:13847044-14246208	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	esv1825924	chr5:14147376-14270450	Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv830209	chr5:14154989-14301758	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv948355	chr5:14160447-14395478	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv4724	chr5:14225543-14243167	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14216000-14225800	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr5:14216800-14227200	Weak transcription	Hela-S3	cervix
3	chr5:14217000-14234600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr5:14218400-14230000	Weak transcription	NHEK	skin
5	chr5:14219200-14228800	Enhancers	Fetal Thymus	thymus
6	chr5:14219800-14226000	Weak transcription	Aorta	Aorta
7	chr5:14219800-14226800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:14219800-14227200	Weak transcription	Gastric	stomach
9	chr5:14219800-14229400	Weak transcription	Brain Hippocampus Middle	brain
10	chr5:14219800-14231000	Weak transcription	HMEC	breast
11	chr5:14219800-14231200	Weak transcription	Fetal Stomach	stomach
12	chr5:14220000-14229400	Weak transcription	Brain Angular Gyrus	brain
13	chr5:14220000-14230000	Weak transcription	Fetal Brain Female	brain
14	chr5:14220400-14229400	Weak transcription	Brain Germinal Matrix	brain
15	chr5:14221000-14226000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr5:14221200-14226800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr5:14221200-14227200	Weak transcription	Fetal Lung	lung
18	chr5:14221400-14227200	Weak transcription	Duodenum Mucosa	Duodenum
19	chr5:14221400-14227400	Weak transcription	Liver	Liver
20	chr5:14221600-14226800	Weak transcription	NHLF	lung
21	chr5:14221600-14227200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr5:14221800-14230800	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr5:14221800-14231400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr5:14221800-14249600	Weak transcription	Colonic Mucosa	Colon
25	chr5:14222000-14226800	Enhancers	HUVEC	blood vessel
26	chr5:14222000-14226800	Weak transcription	NHDF-Ad	bronchial
27	chr5:14222600-14226800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr5:14222600-14228200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr5:14222600-14228400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:14222800-14227200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr5:14223400-14226000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr5:14223400-14229400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr5:14223400-14230200	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr5:14223600-14226400	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr5:14223600-14227000	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr5:14223600-14229600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr5:14223600-14230000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr5:14223800-14226000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr5:14223800-14226000	Weak transcription	Psoas Muscle	Psoas
40	chr5:14223800-14226000	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr5:14223800-14226400	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr5:14223800-14227000	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr5:14223800-14227000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr5:14223800-14227200	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr5:14223800-14229400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr5:14223800-14230400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr5:14223800-14237600	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr5:14224000-14226800	Weak transcription	Fetal Heart	heart
49	chr5:14224000-14226800	Weak transcription	Osteobl	bone
50	chr5:14224000-14228000	Weak transcription	Colon Smooth Muscle	Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links