Variant report

Variant	rs1996968
Chromosome Location	chr2:48918023-48918024
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10208754	0.82[AMR][1000 genomes]
rs11125178	0.93[AMR][1000 genomes]
rs11125179	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11691408	0.81[ASN][1000 genomes]
rs11892581	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11899239	0.83[AMR][1000 genomes]
rs12473064	0.80[AMR][1000 genomes]
rs13022734	0.82[AMR][1000 genomes]
rs1404051	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1464727	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1524148	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1524155	0.88[AMR][1000 genomes]
rs17326209	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17326251	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2056581	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2103113	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2293275	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2349101	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28666758	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34378457	0.81[ASN][1000 genomes]
rs34757099	0.91[ASN][1000 genomes]
rs34790224	0.86[ASN][1000 genomes]
rs3792246	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3811516	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62137532	0.86[ASN][1000 genomes]
rs6545051	0.83[AMR][1000 genomes]
rs6545054	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6738387	0.83[AMR][1000 genomes]
rs6739692	0.81[AMR][1000 genomes]
rs6746530	0.84[AMR][1000 genomes];0.84[ASN][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	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
2	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
3	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
4	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
5	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
6	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

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48863000-48919600	Weak transcription	Colon Smooth Muscle	Colon
2	chr2:48874200-48919600	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr2:48898800-48920200	Weak transcription	Ovary	ovary
4	chr2:48908000-48920000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr2:48917600-48918200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:48917800-48918200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr2:48918000-48919400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr2:48918000-48920800	Weak transcription	Osteobl	bone
9	chr2:48918000-48926400	Weak transcription	Adipose Nuclei	Adipose

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