Variant report

Variant	rs1457201
Chromosome Location	chr8:119138507-119138508
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1563564	0.93[ASN][1000 genomes]
rs17451678	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2445912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2445923	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2451141	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2451143	0.93[ASN][1000 genomes]
rs2451167	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2468139	0.85[ASN][1000 genomes]
rs2468140	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2468153	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2468154	0.89[ASN][1000 genomes]
rs2468155	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2514760	0.93[ASN][1000 genomes]
rs2514761	0.93[ASN][1000 genomes]
rs2514762	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030459	chr8:118840179-119155835	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv612047	chr8:118939094-119468609	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1015380	chr8:118948652-119418389	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv539736	chr8:118948652-119418389	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv831441	chr8:119055370-119262970	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	esv2752195	chr8:119058819-119139819	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv821660	chr8:119082062-119312183	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv891412	chr8:119107051-119139385	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119125800-119149600	Weak transcription	Aorta	Aorta
2	chr8:119132800-119139000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr8:119133400-119138600	Weak transcription	NHLF	lung
4	chr8:119133400-119138800	Weak transcription	HUVEC	blood vessel
5	chr8:119134800-119138800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:119135000-119138800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr8:119135000-119138800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr8:119135000-119138800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr8:119135200-119138600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr8:119135200-119138600	Weak transcription	Fetal Thymus	thymus
11	chr8:119135200-119138800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr8:119135200-119138800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr8:119135200-119139000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr8:119135400-119138600	Weak transcription	NHEK	skin
15	chr8:119135800-119138600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr8:119136000-119138800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr8:119136200-119138600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr8:119136200-119138600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr8:119136200-119139000	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr8:119136400-119138600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:119136400-119138600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr8:119136400-119138600	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr8:119136400-119138600	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr8:119136400-119138600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr8:119136400-119138800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr8:119136600-119138600	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr8:119137200-119138600	Weak transcription	HSMM	muscle
28	chr8:119137400-119139000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:119137400-119139000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr8:119137400-119139600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr8:119137600-119138600	Weak transcription	Lung	lung
32	chr8:119137600-119139800	Enhancers	Fetal Muscle Trunk	muscle
33	chr8:119138200-119139200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr8:119138200-119139600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr8:119138200-119139600	Enhancers	Fetal Muscle Leg	muscle
36	chr8:119138200-119139800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr8:119138400-119138800	Enhancers	Brain Cingulate Gyrus	brain
38	chr8:119138400-119138800	Weak transcription	Esophagus	oesophagus
39	chr8:119138400-119139000	Weak transcription	Brain Angular Gyrus	brain
40	chr8:119138400-119139200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr8:119138400-119139400	Enhancers	Stomach Mucosa	stomach

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