Variant report

Variant	rs72909752
Chromosome Location	chr4:121915482-121915483
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs58464928	0.81[AFR][1000 genomes]
rs72909704	0.81[AFR][1000 genomes]
rs72909705	0.81[AFR][1000 genomes]
rs72909707	0.81[AFR][1000 genomes]
rs72909714	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72909716	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72909719	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72909722	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72909725	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72909742	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72909744	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72909746	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72911632	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72911635	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998094	chr4:121504565-122374203	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1009395	chr4:121841442-122557363	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv537235	chr4:121841442-122557363	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	esv3386870	chr4:121867625-122208448	Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv879859	chr4:121892490-122438312	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 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	chr4:121912400-121916000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:121914400-121915600	Weak transcription	Fetal Lung	lung
3	chr4:121914400-121915800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:121915200-121915800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr4:121915200-121916000	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr4:121915200-121916000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr4:121915200-121916000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr4:121915200-121916400	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr4:121915200-121916400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr4:121915200-121916800	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr4:121915400-121916000	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr4:121915400-121917000	Enhancers	Primary T cells from cord blood	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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