Variant report

Variant	rs72750211
Chromosome Location	chr9:118618333-118618334
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:13)

rs_ID	r²[population]
rs11787606	0.84[AFR][1000 genomes]
rs11788814	0.84[AFR][1000 genomes]
rs11791866	0.84[AFR][1000 genomes]
rs11791932	0.84[AFR][1000 genomes]
rs11792186	0.84[AFR][1000 genomes]
rs11792658	0.84[AFR][1000 genomes]
rs2418426	0.84[AFR][1000 genomes]
rs35165896	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72750204	0.80[EUR][1000 genomes]
rs72750208	0.82[EUR][1000 genomes]
rs72750210	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72750214	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72750216	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][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	nsv948346	chr9:118107565-118718197	Enhancers Bivalent Enhancer Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv1046948	chr9:118185587-118926891	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv916622	chr9:118206309-118952390	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv540207	chr9:118206311-118920304	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv491661	chr9:118206312-118802177	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv831699	chr9:118457011-118641819	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:118617600-118618600	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr9:118617600-118618600	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr9:118617600-118618600	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr9:118617600-118618600	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr9:118617600-118619000	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr9:118617600-118619200	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr9:118617600-118619200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr9:118617600-118619200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr9:118617800-118618600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr9:118617800-118618600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr9:118617800-118618600	Enhancers	HSMM	muscle
12	chr9:118618000-118618400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr9:118618000-118618400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr9:118618000-118618400	Flanking Active TSS	A549	lung
15	chr9:118618000-118618400	Enhancers	NHDF-Ad	bronchial
16	chr9:118618000-118618400	Enhancers	NHLF	lung
17	chr9:118618200-118618600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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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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