Variant report

Variant	rs73090776
Chromosome Location	chr1:216065328-216065329
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs17025521	1.00[AMR][1000 genomes]
rs59845231	1.00[AMR][1000 genomes]
rs6660165	1.00[AMR][1000 genomes]
rs73090712	1.00[AMR][1000 genomes]
rs73090713	1.00[AMR][1000 genomes]
rs73090720	1.00[AMR][1000 genomes]
rs73090721	1.00[AMR][1000 genomes]
rs73090722	1.00[AMR][1000 genomes]
rs73090724	1.00[AMR][1000 genomes]
rs73090727	1.00[AMR][1000 genomes]
rs73090730	1.00[AMR][1000 genomes]
rs73090751	1.00[AMR][1000 genomes]
rs73090780	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73090781	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430324	chr1:215649163-216082605	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1006504	chr1:215890460-216642124	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv535288	chr1:215890460-216642124	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv949671	chr1:215942740-216120815	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv832548	chr1:215987089-216175724	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv468127	chr1:216054086-216066437	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv549193	chr1:216054086-216066437	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv549194	chr1:216055853-216072598	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216063800-216065600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:216064200-216065600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:216064400-216065400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:216064600-216065400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:216064600-216065600	Enhancers	NHLF	lung
6	chr1:216064800-216067600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:216065000-216065400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
8	chr1:216065000-216065400	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr1:216065200-216065400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:216065200-216065400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:216065200-216065400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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