Variant report

Variant	rs72740981
Chromosome Location	chr5:37645363-37645364
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs41270339	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs55633811	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55654436	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56003317	0.94[EUR][1000 genomes]
rs56279820	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs67885658	0.81[EUR][1000 genomes]
rs72740968	0.97[EUR][1000 genomes]
rs72740970	0.97[EUR][1000 genomes]
rs72740972	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72740973	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72740974	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72740975	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72740978	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72740983	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72740989	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72740990	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72740991	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72743159	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72743164	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72743167	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72743169	0.81[EUR][1000 genomes]
rs72743170	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72743176	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72743180	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72743185	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72743187	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72743190	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72743192	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72743193	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72743196	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72743200	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72743201	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72743202	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72745106	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72745108	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7704083	0.86[EUR][1000 genomes]
rs7709969	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9283746	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026554	chr5:37112133-37734859	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv537726	chr5:37112133-37734859	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv949716	chr5:37179341-37967352	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
4	nsv1015983	chr5:37240827-37666601	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
5	nsv1023871	chr5:37330018-37804744	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv537729	chr5:37330018-37804744	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv432744	chr5:37374124-37743077	ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv1034094	chr5:37406859-37666704	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv537731	chr5:37406859-37666704	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv597846	chr5:37430215-37813591	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv880890	chr5:37443079-37681646	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv1030250	chr5:37478163-37734859	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv881383	chr5:37485316-37773877	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37640400-37650800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr5:37642200-37646000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:37645200-37645400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
4	chr5:37645200-37646000	ZNF genes & repeats	Primary hematopoietic stem cells	blood

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