Variant report

Variant	rs346440
Chromosome Location	chr18:39949600-39949601
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11082276	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1841620	0.84[AFR][1000 genomes]
rs1841621	0.81[EUR][1000 genomes]
rs1993752	0.81[EUR][1000 genomes]
rs2053517	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2336239	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs346195	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs346211	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs346216	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs346219	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs346221	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs346229	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs346230	0.87[ASN][1000 genomes]
rs346237	0.83[ASN][1000 genomes]
rs346262	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs346445	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs346446	0.89[EUR][1000 genomes]
rs346448	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs346449	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs346450	0.88[EUR][1000 genomes]
rs346451	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs346452	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs346455	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs365539	0.90[EUR][1000 genomes]
rs369305	0.88[EUR][1000 genomes]
rs379604	0.88[EUR][1000 genomes]
rs391148	0.81[EUR][1000 genomes]
rs394078	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs413718	0.82[EUR][1000 genomes]
rs414142	0.82[EUR][1000 genomes]
rs415805	0.82[EUR][1000 genomes]
rs415810	0.86[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs421436	0.82[EUR][1000 genomes]
rs428198	0.82[EUR][1000 genomes]
rs436343	0.82[EUR][1000 genomes]
rs449040	0.86[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs454565	0.82[EUR][1000 genomes]
rs8093861	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs922266	0.81[EUR][1000 genomes]
rs976071	0.82[EUR][1000 genomes]
rs9964453	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949609	chr18:39126941-40070286	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1059409	chr18:39711099-40139446	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv909572	chr18:39938510-40064000	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:39945600-39953600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr18:39949200-39949800	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr18:39949400-39950200	Enhancers	HUES48 Cell Line	embryonic stem cell

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