Variant report

Variant	rs13248406
Chromosome Location	chr8:62674301-62674302
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:62673250..62675121-chr8:63950408..63951936,2	K562	blood:
2	chr8:62672838..62674719-chr8:62683973..62685855,2	K562	blood:
3	chr8:62671674..62674406-chr8:62692816..62694496,2	K562	blood:
4	chr8:62618042..62628934-chr8:62666240..62683608,38	K562	blood:
5	chr8:62602720..62604723-chr8:62672948..62674768,2	K562	blood:
6	chr8:62625526..62627428-chr8:62673582..62676409,2	MCF-7	breast:
7	chr8:62616378..62628548-chr8:62667442..62677691,25	K562	blood:
8	chr8:62650531..62652161-chr8:62673134..62675125,2	K562	blood:
9	chr8:62649158..62652161-chr8:62671715..62675125,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ASPH-1	chr8:62671660-62674323	XLOC_007098
2	lnc-ASPH-1	chr8:62671653-62674323	ENSG00000251127

No data

Variant related genes	Relation type
ENSG00000137563	Chromatin interaction
ENSG00000264408	Chromatin interaction
ENSG00000198363	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10504333	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13252124	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13258801	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13262020	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13266959	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13275357	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13277217	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[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	nsv1024432	chr8:62086247-62898782	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv932198	chr8:62336705-62914562	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	esv2761430	chr8:62517980-62873803	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1015216	chr8:62517980-62873803	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62671000-62675200	Flanking Active TSS	A549	lung
2	chr8:62672000-62674400	Enhancers	Adipose Nuclei	Adipose
3	chr8:62672000-62674400	Flanking Active TSS	Hela-S3	cervix
4	chr8:62672000-62675000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr8:62672000-62676200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:62672000-62676600	Enhancers	NHDF-Ad	bronchial
7	chr8:62672200-62674600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr8:62672200-62674600	Enhancers	NHLF	lung
9	chr8:62672600-62674600	Enhancers	Muscle Satellite Cultured Cells	--
10	chr8:62672800-62674400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr8:62672800-62674400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr8:62672800-62674400	Enhancers	HUVEC	blood vessel
13	chr8:62672800-62679400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr8:62673000-62677000	Enhancers	HepG2	liver
15	chr8:62673400-62676200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr8:62673600-62674600	Enhancers	NH-A	brain
17	chr8:62673600-62678400	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr8:62673600-62678400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr8:62673600-62678600	Weak transcription	Fetal Lung	lung
20	chr8:62673800-62677200	Enhancers	K562	blood
21	chr8:62674000-62674400	Flanking Active TSS	Osteobl	bone
22	chr8:62674000-62675000	Weak transcription	HMEC	breast
23	chr8:62674000-62675000	Weak transcription	NHEK	skin
24	chr8:62674200-62678400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr8:62674200-62679200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr8:62674200-62679400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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