Variant report

Variant	rs8080888
Chromosome Location	chr17:14942855-14942856
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:14940033..14943746-chr17:14944074..14946842,3	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12453931	0.81[ASN][1000 genomes]
rs17647512	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28626181	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62061411	0.98[ASN][1000 genomes]
rs8076445	0.81[ASN][1000 genomes]
rs8079915	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8080696	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059356	chr17:14539984-14989685	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1055358	chr17:14612995-14958513	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1064686	chr17:14897967-15046005	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:14937600-14945600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr17:14937600-14945600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr17:14940200-14952800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr17:14941400-14943000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr17:14941400-14943200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr17:14941600-14944000	Enhancers	HMEC	breast
7	chr17:14941800-14943000	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr17:14941800-14943000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr17:14941800-14943200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr17:14942000-14943200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr17:14942000-14944000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr17:14942200-14943800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr17:14942200-14943800	Enhancers	NHEK	skin
14	chr17:14942200-14945600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr17:14942400-14943000	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr17:14942400-14943000	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr17:14942600-14943200	Enhancers	H9 Cell Line	embryonic stem cell
18	chr17:14942600-14943800	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr17:14942600-14945800	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr17:14942800-14943000	Enhancers	H1 Cell Line	embryonic stem cell

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