Variant report

Variant	rs73279705
Chromosome Location	chr12:42996488-42996489
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12311369	1.00[EUR][1000 genomes]
rs12313351	1.00[EUR][1000 genomes]
rs12315374	1.00[EUR][1000 genomes]
rs12317555	1.00[EUR][1000 genomes]
rs12317568	1.00[EUR][1000 genomes]
rs12319896	1.00[EUR][1000 genomes]
rs55898220	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73275835	1.00[EUR][1000 genomes]
rs73275837	1.00[EUR][1000 genomes]
rs73275845	1.00[EUR][1000 genomes]
rs73275847	1.00[EUR][1000 genomes]
rs73277834	1.00[EUR][1000 genomes]
rs73277836	1.00[EUR][1000 genomes]
rs73277838	1.00[EUR][1000 genomes]
rs73277841	1.00[EUR][1000 genomes]
rs73277843	1.00[EUR][1000 genomes]
rs74080115	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74080120	1.00[EUR][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	nsv1044790	chr12:42672255-43344184	Enhancers Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
2	nsv541483	chr12:42672255-43344184	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
3	nsv832388	chr12:42878328-43087069	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42991000-43001600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:42994200-42996800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:42995800-42997600	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr12:42996000-42997600	Enhancers	H1 Cell Line	embryonic stem cell
5	chr12:42996000-42998000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:42996200-42997800	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr12:42996200-42998000	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr12:42996200-42998000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr12:42996200-42998000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:42996400-42996800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr12:42996400-42997800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:42996400-42997800	Enhancers	Fetal Heart	heart
13	chr12:42996400-42998000	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr12:42996400-42998000	Enhancers	HUES6 Cell Line	embryonic stem cell

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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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