Variant report

Variant	rs4652545
Chromosome Location	chr1:180947608-180947609
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:180947580-180947730	AG09309	skin:	n/a	n/a
2	CTCF	chr1:180947560-180947710	HAc	cerebellar:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:180927440..180930124-chr1:180947176..180950127,2	MCF-7	breast:
2	chr1:180946954..180949001-chr1:181058078..181059760,2	K562	blood:
3	chr1:180941247..180944022-chr1:180945114..180947896,2	K562	blood:
4	chr1:180940366..180942220-chr1:180947129..180949001,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000243155	TF binding region
ENSG00000234237	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1044595	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10753232	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11586493	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12744212	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12754041	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1411478	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2331903	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3747957	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3789362	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3789364	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4111520	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4495657	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4652547	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4652548	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59145927	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6425657	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6425658	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6665134	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6680541	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7516739	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7528526	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7543927	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7553330	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][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	nsv1014404	chr1:180770155-181090200	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	esv3342865	chr1:180933678-181018012	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	esv3383831	chr1:180937224-181029755	Strong transcription Active TSS Weak transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180922600-180949400	Strong transcription	Dnd41	blood
2	chr1:180923600-180958800	Weak transcription	Small Intestine	intestine
3	chr1:180929000-180956200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:180930200-180950200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr1:180931600-180950800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr1:180933400-180948000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr1:180933400-180974600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:180933800-180948800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:180937800-180950200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:180937800-180950400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:180938600-180950600	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr1:180938800-180948200	Strong transcription	Fetal Muscle Trunk	muscle
13	chr1:180939000-180948000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
14	chr1:180939000-180948400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr1:180939000-180950000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr1:180939200-180950600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr1:180939200-180950600	Strong transcription	Primary B cells from cord blood	blood
18	chr1:180939200-180954400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:180939200-180965600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:180939400-180948000	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr1:180939600-180948800	Strong transcription	Primary hematopoietic stem cells	blood
22	chr1:180939600-180949600	Strong transcription	Primary B cells from peripheral blood	blood
23	chr1:180939800-180947800	Strong transcription	GM12878-XiMat	blood
24	chr1:180940000-180948600	Strong transcription	HMEC	breast
25	chr1:180940400-180988400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr1:180941800-180950600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr1:180942000-180948200	Enhancers	Stomach Mucosa	stomach
28	chr1:180943000-180957400	Weak transcription	Fetal Heart	heart
29	chr1:180943200-180948600	Strong transcription	K562	blood
30	chr1:180943600-180955600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:180943600-180972000	Weak transcription	Psoas Muscle	Psoas
32	chr1:180943600-180979800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr1:180944000-180947800	Strong transcription	Liver	Liver
34	chr1:180944200-180947800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr1:180944200-180948000	Strong transcription	HepG2	liver
36	chr1:180944200-180948200	Genic enhancers	Fetal Thymus	thymus
37	chr1:180944400-180947800	Strong transcription	Sigmoid Colon	Sigmoid Colon
38	chr1:180944400-180948000	Strong transcription	H9 Cell Line	embryonic stem cell
39	chr1:180944400-180962600	Strong transcription	Osteobl	bone
40	chr1:180944600-180951600	Strong transcription	Hela-S3	cervix
41	chr1:180944600-180957600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr1:180944800-180948000	Strong transcription	Fetal Muscle Leg	muscle
43	chr1:180944800-180948000	Strong transcription	Left Ventricle	heart
44	chr1:180944800-180948000	Strong transcription	NHEK	skin
45	chr1:180944800-180948600	Strong transcription	Rectal Mucosa Donor 31	rectum
46	chr1:180944800-180952600	Strong transcription	A549	lung
47	chr1:180944800-180970800	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr1:180945000-180947800	Strong transcription	Aorta	Aorta
49	chr1:180945000-180948200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr1:180945000-180948400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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