Variant report

Variant	rs73680353
Chromosome Location	chr8:54806181-54806182
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	chr8:54805147..54807084-chr8:54817930..54819758,2	K562	blood:
2	chr8:54805478..54808027-chr8:54814864..54817596,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11985444	1.00[ASN][1000 genomes]
rs16919648	1.00[ASN][1000 genomes]
rs16919650	0.96[ASN][1000 genomes]
rs16919652	0.96[ASN][1000 genomes]
rs16919653	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16919655	0.90[ASN][1000 genomes]
rs16919658	0.96[ASN][1000 genomes]
rs2128816	0.84[AMR][1000 genomes]
rs2128817	0.84[AMR][1000 genomes]
rs2128818	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2128819	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60594961	0.84[AMR][1000 genomes]
rs6473896	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7005604	1.00[ASN][1000 genomes]
rs73587686	0.81[AMR][1000 genomes]
rs73680356	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7821073	1.00[ASN][1000 genomes]
rs7821757	1.00[ASN][1000 genomes]
rs7838182	1.00[ASN][1000 genomes]
rs936685	0.96[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	nsv1021775	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv539621	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv1023983	chr8:54790309-55145770	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv539623	chr8:54790309-55145770	Bivalent Enhancer Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 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	chr8:54798400-54814600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr8:54799400-54812200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:54799800-54812400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr8:54800400-54807600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr8:54800400-54810600	Weak transcription	HMEC	breast
6	chr8:54803400-54817200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr8:54803600-54807200	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr8:54803600-54807600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:54803800-54806400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr8:54803800-54806800	Weak transcription	NHEK	skin
11	chr8:54803800-54809800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr8:54803800-54811600	Weak transcription	A549	lung
13	chr8:54804000-54809800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr8:54804000-54816000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr8:54804200-54808800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr8:54805600-54809600	Weak transcription	NHDF-Ad	bronchial
17	chr8:54806000-54806200	Enhancers	NHLF	lung
18	chr8:54806000-54806400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr8:54806000-54806600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:54806000-54807000	Flanking Active TSS	GM12878-XiMat	blood

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