Variant report

Variant	rs11050980
Chromosome Location	chr12:30752177-30752178
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10431223	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11050960	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11050962	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11050963	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11050964	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11050965	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11050966	0.93[ASN][1000 genomes]
rs11050967	0.89[ASN][1000 genomes]
rs11050974	1.00[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs11050975	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11050976	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11050977	0.80[ASN][1000 genomes]
rs11050978	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11050979	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11050981	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11050982	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11050995	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11050996	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11050997	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11050998	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11050999	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11051000	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11051001	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11051004	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11051011	0.84[EUR][1000 genomes]
rs11051014	0.84[EUR][1000 genomes]
rs11051016	0.84[EUR][1000 genomes]
rs11051021	0.84[EUR][1000 genomes]
rs11051024	0.84[EUR][1000 genomes]
rs11051025	0.84[EUR][1000 genomes]
rs11051031	0.84[EUR][1000 genomes]
rs11051032	0.84[EUR][1000 genomes]
rs11051036	0.84[EUR][1000 genomes]
rs11051039	0.84[EUR][1000 genomes]
rs11051040	0.84[EUR][1000 genomes]
rs11051043	0.84[EUR][1000 genomes]
rs11051064	0.84[EUR][1000 genomes]
rs11051067	0.92[EUR][1000 genomes]
rs11051074	0.92[EUR][1000 genomes]
rs11531057	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11534760	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11561156	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1157125	0.92[EUR][1000 genomes]
rs12228212	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12229358	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12229986	0.84[EUR][1000 genomes]
rs12230006	0.84[EUR][1000 genomes]
rs12230490	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12231670	0.84[EUR][1000 genomes]
rs1659284	0.89[ASN][1000 genomes]
rs16906574	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16906582	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16906596	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16906601	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16906606	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16906713	0.84[EUR][1000 genomes]
rs16906758	0.84[EUR][1000 genomes]
rs16916147	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2114900	0.92[EUR][1000 genomes]
rs3850958	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3889761	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3898255	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57735299	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60712960	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7970293	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3343291	chr12:30455597-30992837	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30727800-30752800	Weak transcription	Left Ventricle	heart
2	chr12:30733400-30752600	Weak transcription	Right Ventricle	heart
3	chr12:30736600-30752400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr12:30739600-30752800	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr12:30739600-30756600	Weak transcription	Pancreas	Pancrea
6	chr12:30748000-30757200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:30750200-30753600	Weak transcription	Aorta	Aorta
8	chr12:30751600-30753000	Enhancers	HUVEC	blood vessel
9	chr12:30751800-30753000	Weak transcription	Fetal Muscle Leg	muscle
10	chr12:30752000-30753600	Enhancers	HSMMtube	muscle
11	chr12:30752000-30754000	Enhancers	HepG2	liver

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