Variant report

Variant	rs62525473
Chromosome Location	chr8:104267757-104267758
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:104258179..104261076-chr8:104267475..104269519,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs17204975	1.00[ASN][1000 genomes]
rs17793792	1.00[ASN][1000 genomes]
rs56666894	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61753730	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62525460	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62525462	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62525467	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62525475	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62525488	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62525490	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62525491	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62525492	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62525513	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831413	chr8:104085141-104269789	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv429931	chr8:104097396-104878014	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	esv1848810	chr8:104128496-104369288	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	esv1844303	chr8:104128696-104369090	Genic enhancers Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv1015965	chr8:104192086-104361108	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	nsv1017326	chr8:104236193-104313235	Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	35 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	chr8:104244000-104268400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:104252200-104279000	Weak transcription	Aorta	Aorta
3	chr8:104256200-104268600	Weak transcription	Left Ventricle	heart
4	chr8:104261600-104267800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr8:104264200-104271600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr8:104266400-104268800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr8:104266400-104269800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr8:104266400-104270200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr8:104266600-104268000	Enhancers	Brain Angular Gyrus	brain
10	chr8:104266600-104268800	Enhancers	Brain Cingulate Gyrus	brain
11	chr8:104266600-104269000	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr8:104266600-104269000	Enhancers	HMEC	breast
13	chr8:104266600-104269200	Enhancers	Brain Hippocampus Middle	brain
14	chr8:104266600-104270000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr8:104266600-104270600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr8:104266800-104269000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr8:104266800-104269200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr8:104266800-104269200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr8:104266800-104269200	Enhancers	Muscle Satellite Cultured Cells	--
20	chr8:104266800-104269200	Enhancers	HUVEC	blood vessel
21	chr8:104266800-104269400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr8:104266800-104270200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr8:104267200-104268200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr8:104267200-104268400	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr8:104267200-104268600	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr8:104267200-104268800	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr8:104267200-104268800	Enhancers	NHEK	skin
28	chr8:104267200-104269000	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr8:104267200-104269000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:104267200-104269000	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr8:104267200-104269600	Enhancers	Brain Anterior Caudate	brain
32	chr8:104267200-104269800	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr8:104267200-104269800	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr8:104267400-104268200	Enhancers	H1 Cell Line	embryonic stem cell
35	chr8:104267400-104268200	Enhancers	H9 Cell Line	embryonic stem cell
36	chr8:104267400-104268400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr8:104267400-104268600	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr8:104267400-104269000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr8:104267400-104269000	Enhancers	Hela-S3	cervix
40	chr8:104267400-104269000	Enhancers	NHDF-Ad	bronchial
41	chr8:104267400-104269600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr8:104267400-104269800	Enhancers	Brain Substantia Nigra	brain
43	chr8:104267600-104269000	Enhancers	NH-A	brain
44	chr8:104267600-104269600	Enhancers	Osteobl	bone
45	chr8:104267600-104270000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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