Variant report

Variant	rs833126
Chromosome Location	chr2:183185164-183185165
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12987958	0.82[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12988258	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.95[MEX][hapmap];0.99[MKK][hapmap];0.94[TSI][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1383898	0.80[LWK][hapmap];0.84[YRI][hapmap]
rs16823686	0.81[YRI][hapmap]
rs2577659	0.81[EUR][1000 genomes]
rs2577661	0.82[CEU][hapmap];0.86[EUR][1000 genomes]
rs4583421	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs718448	0.87[LWK][hapmap];0.84[YRI][hapmap]
rs7422491	0.81[YRI][hapmap]
rs7561075	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7595025	0.88[YRI][hapmap];0.83[AFR][1000 genomes]
rs833118	0.86[CEU][hapmap];0.86[EUR][1000 genomes]
rs833119	0.90[CEU][hapmap];0.92[TSI][hapmap];0.85[EUR][1000 genomes]
rs833124	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.87[EUR][1000 genomes]
rs833128	0.95[CEU][hapmap];0.84[TSI][hapmap];0.80[EUR][1000 genomes]
rs833173	0.81[AFR][1000 genomes]
rs833174	0.92[YRI][hapmap];0.85[AFR][1000 genomes]
rs833175	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs833176	0.91[YRI][hapmap];0.81[AFR][1000 genomes]
rs833177	0.81[AFR][1000 genomes]
rs833178	0.92[YRI][hapmap];0.81[AFR][1000 genomes]
rs833179	0.85[AFR][1000 genomes]
rs833181	0.88[YRI][hapmap];0.85[AFR][1000 genomes]
rs833182	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs865578	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv583913	chr2:183043563-183243313	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv533782	chr2:183059730-183500040	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1008825	chr2:183067339-183228668	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv536066	chr2:183067339-183228668	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv459955	chr2:183170516-183204369	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv459956	chr2:183170516-183204369	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv583916	chr2:183170516-183204369	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183175800-183188400	Weak transcription	Aorta	Aorta
2	chr2:183181600-183186200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:183182800-183186000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:183183000-183185400	Enhancers	Hela-S3	cervix
5	chr2:183183200-183185200	Enhancers	Muscle Satellite Cultured Cells	--
6	chr2:183184000-183186400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:183184600-183185200	Enhancers	Colon Smooth Muscle	Colon
8	chr2:183184600-183185200	Enhancers	Fetal Stomach	stomach
9	chr2:183184600-183185200	Enhancers	Right Atrium	heart
10	chr2:183184600-183189400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:183184800-183189200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:183184800-183189200	Weak transcription	Osteobl	bone
13	chr2:183185000-183186200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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