Variant report

Variant	rs73931112
Chromosome Location	chr2:48878725-48878726
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11887791	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11895094	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1524157	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17037507	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17037509	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56312758	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56714490	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58204897	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58281776	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58517799	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6712782	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6717341	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6717370	1.00[AMR][1000 genomes]
rs6718630	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6719829	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6741755	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6742752	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6745333	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6745353	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6747707	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6752326	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6756611	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6761693	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73931111	0.98[AFR][1000 genomes]
rs73931113	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73931116	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7601721	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7602143	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7602224	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9917130	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005954	chr2:48692696-48905723	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv535682	chr2:48692696-48905723	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv581776	chr2:48763382-48913019	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1010494	chr2:48767055-49027310	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv1002793	chr2:48771220-49466550	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	nsv1004965	chr2:48796170-49443587	Bivalent Enhancer Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv535684	chr2:48796170-49443587	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv498119	chr2:48808834-49422647	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	nsv833992	chr2:48814223-48998037	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
10	nsv874004	chr2:48838955-48904550	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	esv3328826	chr2:48878667-48879129	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48863000-48898200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr2:48863000-48919600	Weak transcription	Colon Smooth Muscle	Colon
3	chr2:48869800-48915400	Weak transcription	Adipose Nuclei	Adipose
4	chr2:48874200-48897200	Weak transcription	Ovary	ovary
5	chr2:48874200-48919600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr2:48878000-48878800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:48878000-48878800	Enhancers	Osteobl	bone
8	chr2:48878000-48879200	Enhancers	NHLF	lung
9	chr2:48878200-48878800	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr2:48878200-48878800	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr2:48878200-48878800	Enhancers	Muscle Satellite Cultured Cells	--
12	chr2:48878200-48879000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:48878200-48879000	Enhancers	Fetal Lung	lung
14	chr2:48878200-48879200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:48878600-48878800	Flanking Active TSS	NHDF-Ad	bronchial

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