Variant report

Variant	rs11613143
Chromosome Location	chr12:29600627-29600628
allele	A/C
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:13)

rs_ID	r²[population]
rs10492379	0.83[EUR][1000 genomes]
rs10492380	0.83[EUR][1000 genomes]
rs10843421	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11050241	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12812922	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];0.96[EUR][1000 genomes]
rs12828155	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1369900	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1369904	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1436315	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1436316	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2196489	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs880133	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29581600-29604200	Weak transcription	HSMMtube	muscle
2	chr12:29581800-29613600	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr12:29584200-29641800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:29588000-29607600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr12:29588000-29639800	Weak transcription	Aorta	Aorta
6	chr12:29594200-29614000	Weak transcription	Left Ventricle	heart
7	chr12:29598400-29657400	Weak transcription	HSMM	muscle
8	chr12:29600000-29639800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr12:29600600-29601400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr12:29600600-29675600	Weak transcription	Psoas Muscle	Psoas

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Input of quick search could be:

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

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