Variant report

Variant	rs56030532
Chromosome Location	chr20:40713532-40713533
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs16986527	0.81[AMR][1000 genomes]
rs55732357	1.00[AFR][1000 genomes]
rs6130094	1.00[AFR][1000 genomes]
rs73113869	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73117856	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73131114	1.00[AFR][1000 genomes];0.81[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	nsv3381	chr20:39925326-40765696	Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv2751913	chr20:40422982-41269321	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv532516	chr20:40451059-41097155	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 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	chr20:40701800-40715200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
2	chr20:40710000-40714400	Weak transcription	Fetal Brain Female	brain
3	chr20:40710600-40714200	Enhancers	Fetal Stomach	stomach
4	chr20:40711200-40713600	Weak transcription	Fetal Brain Male	brain
5	chr20:40712200-40725800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr20:40713200-40714200	Enhancers	Right Ventricle	heart
7	chr20:40713200-40714600	Strong transcription	Cortex derived primary cultured neurospheres	brain

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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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