Variant report

Variant	rs11883942
Chromosome Location	chr2:127296122-127296123
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:127295854..127297640-chr2:127535873..127537943,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs11674285	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11677531	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11681865	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11684739	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11684984	0.89[EUR][1000 genomes]
rs11904079	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12990019	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12993851	0.92[EUR][1000 genomes]
rs12996594	0.86[EUR][1000 genomes]
rs12996629	0.92[EUR][1000 genomes]
rs13000835	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13002409	0.89[EUR][1000 genomes]
rs13002851	0.91[EUR][1000 genomes]
rs13003278	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13005708	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13008004	0.83[EUR][1000 genomes]
rs13008398	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13020525	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13023737	0.83[EUR][1000 genomes]
rs13024070	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13025129	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13033014	0.91[EUR][1000 genomes]
rs13035307	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1371627	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1387284	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17677529	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34548924	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34653086	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34662457	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34690725	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35012492	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35260231	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35338260	0.91[EUR][1000 genomes]
rs35364068	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35371374	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35384854	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35453044	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35683961	0.82[EUR][1000 genomes]
rs35703634	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35901702	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35944462	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35976822	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs36109238	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55733801	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56049721	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56072540	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56100722	0.91[EUR][1000 genomes]
rs56332215	0.83[EUR][1000 genomes]
rs66993274	0.86[EUR][1000 genomes]
rs67271291	0.91[EUR][1000 genomes]
rs67286117	0.93[EUR][1000 genomes]
rs67323263	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs67453660	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67960481	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72831488	0.83[EUR][1000 genomes]
rs72831489	0.86[EUR][1000 genomes]
rs72843721	0.91[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	nsv1001995	chr2:126506739-127314488	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1002265	chr2:127029745-127733458	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv535919	chr2:127029745-127733458	Strong transcription Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11883942	MZT2B	cis	parietal	SCAN
rs11883942	CAV2	trans	lymphoblastoid	seeQTL

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127295600-127297600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr2:127295800-127296200	Weak transcription	Placenta Amnion	Placenta Amnion

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