Variant report

Variant	rs530424793
Chromosome Location	chr3:47121681-47121682
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:47118002..47122103-chr3:47123133..47127114,5	K562	blood:

Variant related genes	Relation type
ENSG00000181555	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3461834	chr3:46977730-47173228	Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv3461835	chr3:46977822-47173168	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	esv3461836	chr3:46977822-47173168	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv876756	chr3:47002931-47586514	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
5	nsv997261	chr3:47054766-47133680	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv1007714	chr3:47084387-47331570	Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
7	nsv1002970	chr3:47120592-47170607	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47078000-47130600	Weak transcription	Stomach Mucosa	stomach
2	chr3:47079600-47123800	Weak transcription	Pancreas	Pancrea
3	chr3:47079600-47124200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:47079800-47124200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr3:47083200-47135200	Weak transcription	Small Intestine	intestine
6	chr3:47083400-47138600	Weak transcription	Psoas Muscle	Psoas
7	chr3:47093400-47122600	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr3:47093800-47123400	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr3:47094200-47123800	Weak transcription	Esophagus	oesophagus
10	chr3:47098800-47121800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr3:47098800-47122000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr3:47098800-47122000	Weak transcription	Aorta	Aorta
13	chr3:47098800-47149600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr3:47099000-47121800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr3:47099000-47121800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr3:47099000-47121800	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr3:47099000-47122000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr3:47099000-47122000	Weak transcription	Gastric	stomach
19	chr3:47099000-47125200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr3:47099000-47128200	Weak transcription	Spleen	Spleen
21	chr3:47099200-47122000	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr3:47100000-47122200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr3:47101000-47125200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr3:47101200-47123800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr3:47101400-47147800	Strong transcription	Dnd41	blood
26	chr3:47101600-47123800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr3:47101800-47121800	Weak transcription	Stomach Smooth Muscle	stomach
28	chr3:47103800-47122000	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr3:47105000-47121800	Weak transcription	HMEC	breast
30	chr3:47106200-47121800	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr3:47107000-47121800	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr3:47107600-47122000	Weak transcription	Ovary	ovary
33	chr3:47108000-47121800	Weak transcription	Brain Germinal Matrix	brain
34	chr3:47108000-47121800	Weak transcription	Colonic Mucosa	Colon
35	chr3:47108000-47122000	Weak transcription	Lung	lung
36	chr3:47108000-47125000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr3:47110200-47150200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr3:47110400-47133200	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr3:47110600-47131600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr3:47110600-47148000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr3:47110800-47125200	Strong transcription	Primary B cells from peripheral blood	blood
42	chr3:47111000-47147600	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr3:47111800-47132400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr3:47112400-47153600	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr3:47112800-47121800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr3:47113000-47123600	Weak transcription	Fetal Kidney	kidney
47	chr3:47113200-47124400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr3:47114400-47122000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr3:47114600-47122000	Weak transcription	Thymus	Thymus
50	chr3:47114600-47122200	Weak transcription	Fetal Stomach	stomach

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