Variant report

Variant	rs73240420
Chromosome Location	chr12:20847549-20847550
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12319897	1.00[AMR][1000 genomes]
rs12322107	1.00[AMR][1000 genomes]
rs4128682	1.00[AMR][1000 genomes]
rs58500193	1.00[AMR][1000 genomes]
rs6487134	0.83[AFR][1000 genomes]
rs73238434	1.00[AMR][1000 genomes]
rs73238439	1.00[AMR][1000 genomes]
rs73238452	1.00[AMR][1000 genomes]
rs73240404	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73240410	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73240412	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73240444	0.87[AFR][1000 genomes]
rs73240455	0.85[AFR][1000 genomes]
rs73240460	0.83[AFR][1000 genomes]
rs73240462	0.83[AFR][1000 genomes]
rs7954835	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7960866	0.83[AFR][1000 genomes]
rs7974376	0.94[AFR][1000 genomes];1.00[AMR][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	nsv1048067	chr12:20363755-20874845	Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv541408	chr12:20363755-20874845	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1043890	chr12:20659151-21309993	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv541410	chr12:20659151-21309993	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv1054997	chr12:20682009-21292602	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv557704	chr12:20842041-20893980	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20838800-20849800	Weak transcription	Hela-S3	cervix
2	chr12:20846800-20848000	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr12:20846800-20848200	Enhancers	Adipose Nuclei	Adipose
4	chr12:20847000-20848200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:20847000-20848400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:20847000-20849400	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr12:20847200-20847600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr12:20847200-20848800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr12:20847400-20848400	Weak transcription	Fetal Stomach	stomach

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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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