Variant report

Variant	rs212722
Chromosome Location	chr2:32466607-32466608
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:32465425..32467029-chr2:32470034..32472157,2	K562	blood:

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs11681731	0.81[EUR][1000 genomes]
rs12617289	0.81[EUR][1000 genomes]
rs12617290	0.80[EUR][1000 genomes]
rs1265341	0.81[EUR][1000 genomes]
rs13022197	0.81[EUR][1000 genomes]
rs177083	0.80[ASN][1000 genomes]
rs212678	0.82[EUR][1000 genomes]
rs212679	0.85[EUR][1000 genomes]
rs212695	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs212698	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs212699	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs212700	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs212701	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs212704	0.82[ASN][1000 genomes]
rs212706	0.82[ASN][1000 genomes]
rs212707	0.82[ASN][1000 genomes]
rs212708	0.82[ASN][1000 genomes]
rs212713	0.92[ASN][1000 genomes]
rs212714	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs212715	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs212716	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs212717	0.90[EUR][1000 genomes]
rs212718	0.89[EUR][1000 genomes]
rs212721	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs212723	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs212724	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs212725	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs212726	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs212727	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs212728	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs212730	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs212731	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs212732	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs212733	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs212734	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs212735	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs212737	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs212739	0.84[EUR][1000 genomes]
rs212745	0.82[EUR][1000 genomes]
rs212746	0.82[EUR][1000 genomes]
rs212758	0.81[AMR][1000 genomes]
rs212759	0.84[AMR][1000 genomes]
rs212760	0.85[EUR][1000 genomes]
rs2235134	0.81[EUR][1000 genomes]
rs2365558	0.80[EUR][1000 genomes]
rs2566483	0.87[EUR][1000 genomes]
rs374743	0.85[EUR][1000 genomes]
rs408813	0.87[EUR][1000 genomes]
rs428002	0.86[EUR][1000 genomes]
rs430759	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs435572	0.83[EUR][1000 genomes]
rs443609	0.86[EUR][1000 genomes]
rs455060	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs466126	0.85[EUR][1000 genomes]
rs494569	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4952250	0.80[EUR][1000 genomes]
rs57903075	0.97[ASN][1000 genomes]
rs59966205	0.87[EUR][1000 genomes]
rs6543649	0.80[EUR][1000 genomes]
rs659239	0.87[EUR][1000 genomes]
rs7573543	0.81[EUR][1000 genomes]
rs7581340	0.81[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	nsv949102	chr2:32030307-33011548	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv833670	chr2:32295778-32481857	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv817386	chr2:32332893-32724794	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv1001038	chr2:32333378-32657112	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv1009359	chr2:32333378-32725117	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	nsv535613	chr2:32333378-32725117	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	esv2422335	chr2:32412330-33200581	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
8	nsv2667	chr2:32444810-32489755	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32443000-32483600	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr2:32443200-32483800	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr2:32447400-32483800	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr2:32448400-32474800	Weak transcription	Colon Smooth Muscle	Colon
5	chr2:32448800-32467000	Weak transcription	Left Ventricle	heart
6	chr2:32448800-32475600	Weak transcription	Lung	lung
7	chr2:32448800-32484800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr2:32451600-32475600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr2:32451800-32467600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:32452000-32475400	Weak transcription	Spleen	Spleen
11	chr2:32452200-32467400	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr2:32452200-32468200	Weak transcription	Primary T cells from cord blood	blood
13	chr2:32452200-32479400	Weak transcription	Adipose Nuclei	Adipose
14	chr2:32452600-32467200	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr2:32460000-32477000	Weak transcription	Placenta	Placenta
16	chr2:32462800-32466800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:32463600-32487000	Weak transcription	Primary B cells from peripheral blood	blood
18	chr2:32463800-32467000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:32465000-32475400	Weak transcription	Primary B cells from cord blood	blood
20	chr2:32466200-32474200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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