Variant report

Variant	rs74146399
Chromosome Location	chr1:224782376-224782377
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs55730825	1.00[AMR][1000 genomes]
rs56034385	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56825738	1.00[AMR][1000 genomes]
rs56912045	1.00[AMR][1000 genomes]
rs57321094	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57845819	1.00[AMR][1000 genomes]
rs57931386	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58482551	1.00[AMR][1000 genomes]
rs58565730	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59931444	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60418054	1.00[AMR][1000 genomes]
rs60681998	1.00[AMR][1000 genomes]
rs60737124	1.00[AMR][1000 genomes]
rs61556319	1.00[AMR][1000 genomes]
rs74146204	1.00[AMR][1000 genomes]
rs74146393	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74146395	1.00[AFR][1000 genomes]
rs74146397	1.00[AMR][1000 genomes]
rs74146400	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74149624	1.00[AMR][1000 genomes]
rs74149626	1.00[AMR][1000 genomes]
rs873829	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs873830	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs873831	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs873832	1.00[AMR][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	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv873224	chr1:224746577-224794913	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224781200-224782400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr1:224781200-224793800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:224781600-224787200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:224782000-224782400	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr1:224782200-224782400	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr1:224782200-224782400	Enhancers	H1 Cell Line	embryonic stem cell
7	chr1:224782200-224782400	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr1:224782200-224782400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:224782200-224782400	ZNF genes & repeats	Aorta	Aorta
10	chr1:224782200-224782400	Bivalent Enhancer	Lung	lung
11	chr1:224782200-224782600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:224782200-224782600	Enhancers	Foreskin Melanocyte Primary Cells skin03	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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