Variant report

Variant	rs11902275
Chromosome Location	chr2:127797656-127797657
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11888878	0.96[CEU][hapmap];0.84[CHB][hapmap];0.90[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11893989	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12465042	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12474412	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12476339	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12477924	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17014784	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17014818	0.96[CEU][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17014851	0.96[CEU][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17040070	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2071268	0.96[CEU][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2071270	0.96[CEU][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3768859	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3768860	0.96[CEU][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4662703	1.00[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4663089	0.96[CEU][hapmap]
rs4663090	0.83[EUR][1000 genomes]
rs55819047	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55999604	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56408880	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60022219	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs66507470	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6745677	0.96[CEU][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs67920725	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72481904	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs727095	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72846676	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7570116	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7573824	0.92[CEU][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs880436	0.96[CEU][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999422	chr2:127464647-127956543	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1004930	chr2:127477369-127938234	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer 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	12 gene(s)	inside rSNPs	diseases
3	nsv459230	chr2:127771006-127844735	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv583032	chr2:127771006-127844735	Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1003730	chr2:127794288-127860830	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv1003461	chr2:127794288-127862257	Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv516759	chr2:127796666-127859441	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	nsv1000994	chr2:127797089-127860830	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127783800-127815600	Weak transcription	Aorta	Aorta
2	chr2:127793200-127801200	Weak transcription	Fetal Lung	lung
3	chr2:127793200-127805400	Weak transcription	Liver	Liver
4	chr2:127795600-127801400	Weak transcription	Fetal Heart	heart
5	chr2:127795800-127807600	Weak transcription	Brain Germinal Matrix	brain
6	chr2:127797000-127797800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
7	chr2:127797000-127797800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr2:127797200-127797800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:127797400-127797800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:127797400-127798200	Enhancers	GM12878-XiMat	blood
11	chr2:127797600-127798200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:127797600-127805200	Weak transcription	Primary B cells from peripheral blood	blood

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