Variant report

Variant	rs357833
Chromosome Location	chr4:59988095-59988096
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1002012	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1002013	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1973511	0.82[AFR][1000 genomes]
rs357812	0.85[CHD][hapmap];0.81[JPT][hapmap]
rs357814	0.85[CHD][hapmap];0.81[JPT][hapmap]
rs357817	0.82[AFR][1000 genomes]
rs357819	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs357821	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs357822	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs357827	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs357828	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs357836	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs357837	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs357838	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs357848	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs372580	0.82[AFR][1000 genomes]
rs399068	0.82[AFR][1000 genomes]
rs415904	0.82[AFR][1000 genomes]
rs436198	0.82[AFR][1000 genomes]
rs4493619	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6551610	0.82[AFR][1000 genomes]
rs6551611	0.82[AFR][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	nsv1011113	chr4:59647956-60263029	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv879045	chr4:59889898-60005301	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv879046	chr4:59897952-59998696	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv879047	chr4:59900914-60005301	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv829946	chr4:59913771-60083867	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv2421457	chr4:59974071-59988109	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
7	esv2763787	chr4:59974071-59990876	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
8	esv18375	chr4:59977391-59988256	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
9	nsv515507	chr4:59978132-59988095	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
10	nsv526492	chr4:59978132-59998696	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs357833	CA2	trans	lymphoblastoid	seeQTL

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:59986200-59988200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr4:59987000-59988200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr4:59987000-59991000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr4:59987200-59988200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr4:59987200-59990800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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