Variant report

Variant	rs12812922
Chromosome Location	chr12:29613913-29613914
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10843421	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11050241	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11613143	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12823082	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12828155	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1369900	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1369904	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1436315	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1436316	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2196489	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs880133	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053641	chr12:29268813-29854413	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv898952	chr12:29565537-29617550	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv469190	chr12:29612425-29811471	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv557917	chr12:29612425-29811471	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29584200-29641800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:29588000-29639800	Weak transcription	Aorta	Aorta
3	chr12:29594200-29614000	Weak transcription	Left Ventricle	heart
4	chr12:29598400-29657400	Weak transcription	HSMM	muscle
5	chr12:29600000-29639800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr12:29600600-29675600	Weak transcription	Psoas Muscle	Psoas
7	chr12:29604200-29655400	Weak transcription	Adipose Nuclei	Adipose
8	chr12:29608200-29622000	Weak transcription	Brain Anterior Caudate	brain
9	chr12:29608600-29624800	Weak transcription	Pancreas	Pancrea
10	chr12:29608800-29627200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr12:29609400-29631600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr12:29612800-29614600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr12:29612800-29655600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr12:29613600-29614400	Strong transcription	Muscle Satellite Cultured Cells	--
15	chr12:29613600-29614600	Strong transcription	HSMMtube	muscle
16	chr12:29613600-29655600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr12:29613600-29666800	Weak transcription	Spleen	Spleen

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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