Variant report

Variant	rs11123821
Chromosome Location	chr2:100871189-100871190
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10496346	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10865037	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11123817	0.81[ASN][1000 genomes]
rs11123818	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11123819	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11123820	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1122231	0.81[ASN][1000 genomes]
rs1160543	0.81[ASN][1000 genomes]
rs1160545	0.81[ASN][1000 genomes]
rs11685491	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11689199	0.80[ASN][1000 genomes]
rs11689201	0.80[ASN][1000 genomes]
rs11694723	0.81[AFR][1000 genomes]
rs11695996	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12053126	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12614880	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12615145	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12619178	0.81[ASN][1000 genomes]
rs12987662	0.80[ASN][1000 genomes]
rs12994592	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13010010	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13017207	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13018640	0.80[ASN][1000 genomes]
rs13019179	0.81[AFR][1000 genomes]
rs13026143	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13026283	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13034176	0.81[ASN][1000 genomes]
rs1465800	0.81[ASN][1000 genomes]
rs1465801	0.81[ASN][1000 genomes]
rs2309812	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2309838	0.81[ASN][1000 genomes]
rs2871344	0.81[ASN][1000 genomes]
rs4303732	0.80[ASN][1000 genomes]
rs4331524	0.81[AFR][1000 genomes]
rs4583487	0.81[ASN][1000 genomes]
rs4622752	0.81[AFR][1000 genomes]
rs4851270	0.81[ASN][1000 genomes]
rs4851271	0.81[ASN][1000 genomes]
rs6750097	0.81[ASN][1000 genomes]
rs999052	0.81[ASN][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	nsv1007777	chr2:100816913-101308914	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv535844	chr2:100816913-101308914	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv834311	chr2:100816917-100990036	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100864200-100879800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:100865800-100879800	Weak transcription	Right Atrium	heart
3	chr2:100869800-100873000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:100870200-100873200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr2:100870200-100873200	Weak transcription	Fetal Brain Female	brain

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