Variant report

Variant	rs73405980
Chromosome Location	chr12:119447779-119447780
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs58472164	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59156247	1.00[AMR][1000 genomes]
rs73405982	1.00[AMR][1000 genomes]
rs73405986	1.00[AMR][1000 genomes]
rs73405988	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408042	0.91[AFR][1000 genomes]
rs73408096	1.00[AMR][1000 genomes]
rs73412021	1.00[AMR][1000 genomes]
rs73412027	1.00[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	nsv930978	chr12:118866332-119450600	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv1046251	chr12:119353064-119467301	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv541615	chr12:119353064-119467301	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119440800-119448000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:119447000-119450400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:119447000-119450600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:119447200-119447800	Enhancers	Fetal Muscle Leg	muscle
5	chr12:119447400-119447800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
6	chr12:119447400-119448000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr12:119447600-119447800	Enhancers	Brain Germinal Matrix	brain
8	chr12:119447600-119449200	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr12:119447600-119449400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:119447600-119449600	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr12:119447600-119450400	Weak transcription	hESC Derived CD184+ Endoderm 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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