Variant report

Variant	rs58297550
Chromosome Location	chr8:48585170-48585171
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr8:48585112-48585307	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:48582961..48585472-chr8:48591112..48593396,2	K562	blood:
2	chr8:48570759..48574488-chr8:48583570..48586841,4	K562	blood:
3	chr8:48583972..48585841-chr8:48591112..48592777,2	K562	blood:

Variant related genes	Relation type
SPIDR	TF binding region
ENSG00000164808	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10092880	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10095193	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10958274	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1487438	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28542855	0.90[AMR][1000 genomes]
rs4873728	0.85[AFR][1000 genomes]
rs6992255	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7001539	0.81[AFR][1000 genomes]
rs72646361	0.83[EUR][1000 genomes]
rs72646372	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs72646383	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs729228	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7812323	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7822320	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7830350	0.83[AMR][1000 genomes]
rs7841661	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7843066	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491863	chr8:48053825-48586176	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1027043	chr8:48444306-48637900	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv539596	chr8:48444306-48637900	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv1803608	chr8:48506628-48874811	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 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	chr8:48573200-48589200	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr8:48574200-48589600	Weak transcription	Fetal Intestine Large	intestine
3	chr8:48574400-48591000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr8:48574400-48592600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr8:48574800-48588200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr8:48574800-48588400	Weak transcription	NHLF	lung
7	chr8:48574800-48595800	Weak transcription	Ovary	ovary
8	chr8:48575000-48589400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:48575600-48592000	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr8:48576000-48589200	Weak transcription	Esophagus	oesophagus
11	chr8:48576000-48592800	Weak transcription	Small Intestine	intestine
12	chr8:48576000-48595800	Weak transcription	Gastric	stomach
13	chr8:48576200-48591200	Weak transcription	Primary T cells from cord blood	blood
14	chr8:48576800-48589400	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr8:48576800-48591000	Weak transcription	Pancreas	Pancrea
16	chr8:48576800-48594600	Weak transcription	NHDF-Ad	bronchial
17	chr8:48576800-48612800	Weak transcription	Fetal Intestine Small	intestine
18	chr8:48577000-48589400	Weak transcription	Left Ventricle	heart
19	chr8:48582000-48589400	Weak transcription	Right Atrium	heart
20	chr8:48582000-48591000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr8:48582000-48613000	Weak transcription	Aorta	Aorta
22	chr8:48582200-48585400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr8:48582200-48587400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr8:48582200-48588000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr8:48582200-48588600	Weak transcription	Brain Angular Gyrus	brain
26	chr8:48582200-48589200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr8:48582200-48591000	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr8:48582200-48594600	Weak transcription	HSMMtube	muscle
29	chr8:48582200-48604200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr8:48582200-48609400	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr8:48582400-48585400	Weak transcription	NHEK	skin
32	chr8:48582800-48585400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr8:48582800-48585400	Weak transcription	HMEC	breast
34	chr8:48582800-48588600	Weak transcription	HSMM	muscle
35	chr8:48582800-48591000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr8:48582800-48592800	Weak transcription	Osteobl	bone
37	chr8:48583000-48585400	Weak transcription	Placenta	Placenta
38	chr8:48583000-48589200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr8:48583000-48594400	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr8:48583000-48613000	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr8:48583200-48589400	Weak transcription	Primary B cells from cord blood	blood
42	chr8:48583400-48588400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr8:48583400-48588400	Weak transcription	Fetal Heart	heart
44	chr8:48583600-48592800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr8:48584800-48586600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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