Variant report

Variant	rs73780309
Chromosome Location	chr5:114833172-114833173
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs60942061	1.00[AMR][1000 genomes]
rs61529300	1.00[AMR][1000 genomes]
rs61680130	1.00[AMR][1000 genomes]
rs73780317	1.00[AMR][1000 genomes]
rs73780389	1.00[AMR][1000 genomes]
rs73782717	1.00[AMR][1000 genomes]
rs73782723	1.00[AMR][1000 genomes]
rs73782724	1.00[AMR][1000 genomes]
rs73782726	1.00[AMR][1000 genomes]
rs768946	1.00[AMR][1000 genomes]

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	nsv916273	chr5:114656592-115089901	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv830455	chr5:114761542-114938284	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv1032234	chr5:114785557-114911527	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 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	chr5:114830400-114836000	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr5:114830400-114836200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr5:114830600-114833200	Weak transcription	Aorta	Aorta
4	chr5:114830600-114838800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr5:114831000-114837200	Weak transcription	Fetal Stomach	stomach
6	chr5:114832400-114833400	Enhancers	Fetal Muscle Leg	muscle
7	chr5:114832800-114833400	Enhancers	Fetal Brain Male	brain
8	chr5:114833000-114833200	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr5:114833000-114833200	Enhancers	Right Atrium	heart
10	chr5:114833000-114833400	Enhancers	Fetal Heart	heart
11	chr5:114833000-114833400	Enhancers	Left Ventricle	heart
12	chr5:114833000-114833400	Enhancers	Right Ventricle	heart

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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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