Variant report

Variant	rs56687540
Chromosome Location	chr4:47908013-47908014
allele	A/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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:47901843..47903515-chr4:47906102..47908734,2	MCF-7	breast:
2	chr4:47901821..47910002-chr4:47912490..47917520,12	MCF-7	breast:
3	chr4:47899059..47902467-chr4:47904665..47908829,3	K562	blood:
4	chr4:47857858..47861058-chr4:47906882..47908675,3	MCF-7	breast:
5	chr4:47907905..47911619-chr4:47914071..47917997,8	K562	blood:
6	chr4:47843029..47844670-chr4:47907030..47909401,2	K562	blood:
7	chr4:47905358..47911126-chr4:47914297..47917984,8	MCF-7	breast:
8	chr4:47906567..47911619-chr4:47914438..47917527,8	K562	blood:

No data

Variant related genes	Relation type
ENSG00000163293	Chromatin interaction
ENSG00000170448	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1507915	1.00[AMR][1000 genomes]
rs16860662	1.00[AMR][1000 genomes]
rs16860736	1.00[AMR][1000 genomes]
rs16860753	1.00[AMR][1000 genomes]
rs16860819	1.00[AMR][1000 genomes]
rs16860820	1.00[AMR][1000 genomes]
rs4695291	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4695297	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4695298	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6848169	1.00[AMR][1000 genomes]
rs7661190	1.00[AMR][1000 genomes]
rs7669567	1.00[AMR][1000 genomes]
rs7684454	1.00[AMR][1000 genomes]
rs7696933	1.00[AMR][1000 genomes]
rs7697350	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv594118	chr4:47560386-47917730	Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
2	esv3447039	chr4:47822266-48285222	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 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	chr4:47865400-47913400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr4:47872400-47911600	Strong transcription	Primary T helper cells fromperipheralblood	blood
3	chr4:47873400-47913400	Strong transcription	HUES48 Cell Line	embryonic stem cell
4	chr4:47873600-47910600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:47874400-47913400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
6	chr4:47874400-47913600	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr4:47876000-47908600	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr4:47876000-47915200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:47876200-47915200	Weak transcription	Right Ventricle	heart
10	chr4:47876400-47915200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr4:47876800-47915800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr4:47877400-47913800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr4:47877600-47913600	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr4:47877800-47910200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr4:47882200-47915200	Weak transcription	Stomach Mucosa	stomach
16	chr4:47882800-47913000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr4:47883200-47913600	Strong transcription	HMEC	breast
18	chr4:47883200-47913800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr4:47883200-47914400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr4:47884200-47913000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr4:47889800-47913400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr4:47890400-47913800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr4:47890400-47914200	Strong transcription	Liver	Liver
24	chr4:47890600-47909200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr4:47890600-47910200	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr4:47890800-47909600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr4:47890800-47913000	Strong transcription	Placenta	Placenta
28	chr4:47894600-47915200	Weak transcription	Aorta	Aorta
29	chr4:47894600-47915200	Weak transcription	Gastric	stomach
30	chr4:47895000-47913800	Weak transcription	Fetal Heart	heart
31	chr4:47896400-47912600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr4:47897800-47909800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr4:47898200-47909200	Weak transcription	Ovary	ovary
34	chr4:47898200-47915200	Weak transcription	Small Intestine	intestine
35	chr4:47898400-47915000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr4:47898400-47915200	Weak transcription	Colonic Mucosa	Colon
37	chr4:47898600-47915200	Weak transcription	Fetal Brain Male	brain
38	chr4:47899600-47915600	Weak transcription	Lung	lung
39	chr4:47899800-47915000	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr4:47899800-47915200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr4:47899800-47915200	Weak transcription	Brain Substantia Nigra	brain
42	chr4:47900000-47908800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr4:47900000-47908800	Weak transcription	A549	lung
44	chr4:47900000-47909000	Weak transcription	NHEK	skin
45	chr4:47900000-47912000	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr4:47900000-47913800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr4:47900000-47914000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr4:47900000-47915200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr4:47900200-47915200	Weak transcription	HSMMtube	muscle
50	chr4:47900600-47915200	Weak transcription	Thymus	Thymus

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