Variant report

Variant	rs11917872
Chromosome Location	chr3:118690664-118690665
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10212391	1.00[EUR][1000 genomes]
rs11917432	1.00[AMR][1000 genomes]
rs11919070	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11921594	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11922638	0.80[AFR][1000 genomes]
rs11923296	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11924178	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11925505	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11925585	0.85[AFR][1000 genomes]
rs11928039	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11929112	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs34414843	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60177242	1.00[EUR][1000 genomes]
rs6762269	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6766405	1.00[EUR][1000 genomes]
rs6809801	1.00[EUR][1000 genomes]
rs72953018	1.00[EUR][1000 genomes]
rs72966806	1.00[EUR][1000 genomes]
rs9813328	1.00[EUR][1000 genomes]
rs9834188	1.00[EUR][1000 genomes]
rs9847272	1.00[EUR][1000 genomes]
rs9854240	1.00[EUR][1000 genomes]
rs9860233	1.00[EUR][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	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv1010475	chr3:118657382-118789714	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active 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	3 gene(s)	inside rSNPs	diseases
4	nsv877369	chr3:118681771-118824418	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv2756586	chr3:118688611-118863998	Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:118681200-118694000	Enhancers	Brain Substantia Nigra	brain
2	chr3:118681800-118692800	Enhancers	Brain Anterior Caudate	brain
3	chr3:118683400-118696200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr3:118684800-118694000	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr3:118687400-118691800	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr3:118687400-118691800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr3:118688600-118691200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr3:118688800-118706000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr3:118689000-118691600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr3:118689000-118703600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr3:118690000-118691000	Weak transcription	Brain Angular Gyrus	brain
12	chr3:118690000-118691000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr3:118690000-118691200	Weak transcription	Brain Hippocampus Middle	brain
14	chr3:118690000-118691400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr3:118690000-118691400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr3:118690200-118691200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr3:118690200-118691200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr3:118690200-118691400	Weak transcription	Fetal Heart	heart
19	chr3:118690200-118691600	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr3:118690200-118691800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr3:118690400-118690800	Weak transcription	Brain Germinal Matrix	brain

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