Variant report

Variant	rs72801576
Chromosome Location	chr2:55718701-55718702
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs55719329	1.00[EUR][1000 genomes]
rs56062543	1.00[EUR][1000 genomes]
rs56088561	1.00[EUR][1000 genomes]
rs56296556	1.00[AFR][1000 genomes]
rs72801537	1.00[EUR][1000 genomes]
rs72803512	1.00[EUR][1000 genomes]
rs72803538	1.00[EUR][1000 genomes]
rs72803549	1.00[EUR][1000 genomes]
rs72803593	1.00[EUR][1000 genomes]
rs72807626	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006170	chr2:55530179-55809251	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv520581	chr2:55622825-55903016	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv874160	chr2:55713102-55828974	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv521318	chr2:55716650-55736704	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv525434	chr2:55716650-55841640	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 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	chr2:55717000-55718800	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr2:55717800-55718800	Enhancers	HSMM	muscle
3	chr2:55717800-55720000	Enhancers	Brain Germinal Matrix	brain
4	chr2:55718000-55718800	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr2:55718000-55718800	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr2:55718000-55718800	Enhancers	Brain Hippocampus Middle	brain
7	chr2:55718000-55719000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:55718000-55720200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:55718000-55720200	Weak transcription	NHEK	skin
10	chr2:55718200-55718800	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr2:55718600-55718800	Enhancers	K562	blood
12	chr2:55718600-55726800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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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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