Variant report

Variant	rs72992033
Chromosome Location	chr1:150885713-150885714
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs6691331	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72992027	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72992040	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72992042	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72992046	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73008818	1.00[AMR][1000 genomes]
rs73010812	1.00[AMR][1000 genomes]
rs9436016	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2829859	chr1:150608894-150937329	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1001897	chr1:150743271-151241600	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535158	chr1:150743271-151241600	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv1008496	chr1:150845827-150970656	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	nsv947130	chr1:150878115-150899504	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150879200-150898200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:150884800-150885800	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr1:150884800-150885800	Enhancers	H9 Cell Line	embryonic stem cell
4	chr1:150884800-150885800	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr1:150884800-150885800	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr1:150885400-150887200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:150885600-150887200	Weak transcription	Foreskin Fibroblast 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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