Variant report

Variant	rs56079047
Chromosome Location	chr1:180497748-180497749
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:180497440..180500935-chr1:180506480..180510504,4	K562	blood:
2	chr1:180496778..180499562-chr1:180501152..180503837,3	K562	blood:
3	chr1:180470507..180472649-chr1:180497010..180499983,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135847	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs55660948	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs55912749	0.95[EUR][1000 genomes]
rs56333717	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72714816	0.80[EUR][1000 genomes]
rs72714819	0.80[EUR][1000 genomes]
rs72714820	0.80[EUR][1000 genomes]
rs72714824	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72714859	0.81[EUR][1000 genomes]
rs72714872	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72714883	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72714890	0.85[EUR][1000 genomes]
rs72714891	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72714892	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72714894	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72714896	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72716605	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72716619	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72716624	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72716634	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72716637	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72720921	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72720928	0.95[EUR][1000 genomes]
rs72720930	0.95[EUR][1000 genomes]
rs7552701	0.80[EUR][1000 genomes];0.86[ASN][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	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers 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	48 gene(s)	inside rSNPs	diseases
2	nsv949311	chr1:180438895-180692815	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180486000-180499400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:180488000-180500400	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr1:180491000-180499400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:180491400-180499400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:180491600-180511200	Weak transcription	Psoas Muscle	Psoas
6	chr1:180492400-180499400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:180492400-180503000	Weak transcription	Pancreas	Pancrea
8	chr1:180492600-180498000	Weak transcription	HSMMtube	muscle
9	chr1:180494200-180502200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:180494200-180503000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr1:180494400-180508200	Weak transcription	Right Ventricle	heart
12	chr1:180494600-180503000	Weak transcription	Fetal Lung	lung
13	chr1:180495000-180499200	Weak transcription	Adipose Nuclei	Adipose
14	chr1:180495000-180499200	Weak transcription	Esophagus	oesophagus
15	chr1:180495000-180499200	Weak transcription	Lung	lung
16	chr1:180495000-180502200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:180495000-180503800	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr1:180495200-180502600	Weak transcription	Brain Hippocampus Middle	brain
19	chr1:180496200-180498000	Enhancers	Muscle Satellite Cultured Cells	--
20	chr1:180496400-180499400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:180496600-180499200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:180496600-180499400	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr1:180496600-180499600	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr1:180496600-180508000	Weak transcription	Right Atrium	heart
25	chr1:180496800-180499200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr1:180496800-180499200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:180496800-180499200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:180496800-180499200	Weak transcription	Hela-S3	cervix
29	chr1:180496800-180499200	Weak transcription	HepG2	liver
30	chr1:180496800-180503600	Weak transcription	Left Ventricle	heart
31	chr1:180497000-180498200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr1:180497000-180499200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:180497000-180499200	Weak transcription	Fetal Intestine Small	intestine
34	chr1:180497000-180499200	Weak transcription	Placenta	Placenta
35	chr1:180497000-180499200	Weak transcription	HSMM	muscle
36	chr1:180497000-180499200	Weak transcription	NH-A	brain
37	chr1:180497000-180499200	Weak transcription	NHEK	skin
38	chr1:180497000-180499400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr1:180497000-180499400	Weak transcription	Osteobl	bone
40	chr1:180497000-180502400	Weak transcription	Fetal Heart	heart
41	chr1:180497000-180502600	Weak transcription	K562	blood
42	chr1:180497200-180498200	Weak transcription	HMEC	breast
43	chr1:180497200-180499200	Weak transcription	A549	lung
44	chr1:180497600-180497800	Enhancers	Aorta	Aorta
45	chr1:180497600-180500200	Enhancers	HUVEC	blood vessel

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links