Variant report

Variant	rs2220093
Chromosome Location	chr8:54801327-54801328
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs16919653	0.82[YRI][hapmap]
rs2128819	0.82[YRI][hapmap]

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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54795600-54801400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:54798400-54814600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr8:54799200-54803800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:54799400-54812200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:54799800-54812400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr8:54800000-54802400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:54800200-54801600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:54800200-54801800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr8:54800400-54801600	Weak transcription	NHEK	skin
10	chr8:54800400-54807600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr8:54800400-54810600	Weak transcription	HMEC	breast
12	chr8:54800600-54801800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:54800600-54803400	ZNF genes & repeats	A549	lung
14	chr8:54801000-54801400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr8:54801000-54801800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
16	chr8:54801200-54801600	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr8:54801200-54803800	ZNF genes & repeats	GM12878-XiMat	blood
18	chr8:54801200-54804000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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