Variant report

Variant	rs72970438
Chromosome Location	chr3:118727755-118727756
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs28392691	1.00[AMR][1000 genomes]
rs58420381	1.00[AMR][1000 genomes]
rs6768020	1.00[AMR][1000 genomes]
rs6796798	1.00[AMR][1000 genomes]
rs72966899	1.00[AMR][1000 genomes]
rs72968606	1.00[AMR][1000 genomes]
rs72968612	1.00[AMR][1000 genomes]
rs72968632	1.00[AMR][1000 genomes]
rs72968654	1.00[AMR][1000 genomes]
rs72970470	1.00[AMR][1000 genomes]
rs72970472	1.00[AMR][1000 genomes]
rs7623832	1.00[AMR][1000 genomes]
rs7624134	1.00[AMR][1000 genomes]
rs7625109	1.00[AMR][1000 genomes]
rs9289118	1.00[AMR][1000 genomes]
rs9814712	1.00[AMR][1000 genomes]
rs9826100	1.00[AMR][1000 genomes]
rs9827711	1.00[AMR][1000 genomes]
rs9835052	1.00[AMR][1000 genomes]
rs9840552	1.00[AMR][1000 genomes]
rs9841148	1.00[AMR][1000 genomes]
rs9847137	1.00[AMR][1000 genomes]
rs9848498	1.00[AMR][1000 genomes]
rs9854365	1.00[AMR][1000 genomes]
rs9857367	1.00[AMR][1000 genomes]
rs9859319	1.00[AMR][1000 genomes]
rs9862313	1.00[AMR][1000 genomes]
rs9862556	1.00[AMR][1000 genomes]
rs9876041	1.00[AMR][1000 genomes]
rs9882006	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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
6	nsv877370	chr3:118711777-118799682	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv877371	chr3:118711777-118824418	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1001072	chr3:118719480-118820645	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv591350	chr3:118719480-118823141	Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	esv33349	chr3:118726577-118803600	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	2 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	chr3:118715400-118731800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr3:118716800-118729000	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr3:118725200-118737600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr3:118726200-118727800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
5	chr3:118726400-118728600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr3:118727000-118729600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
7	chr3:118727000-118729600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr3:118727200-118731600	Weak transcription	Psoas Muscle	Psoas
9	chr3:118727400-118727800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr3:118727400-118730800	Weak transcription	Brain Substantia Nigra	brain
11	chr3:118727400-118731600	Weak transcription	Ovary	ovary

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