Variant report

Variant	rs11050822
Chromosome Location	chr12:30480882-30480883
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 93 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10082827	0.98[ASN][1000 genomes]
rs10082936	0.98[ASN][1000 genomes]
rs10083054	0.99[ASN][1000 genomes]
rs10771699	0.95[ASN][1000 genomes]
rs10771700	0.95[ASN][1000 genomes]
rs10771701	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10771702	0.85[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs10843721	0.89[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs10843722	0.86[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs11050819	0.99[ASN][1000 genomes]
rs11050821	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11050824	0.89[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs11050825	0.99[ASN][1000 genomes]
rs11834249	0.99[ASN][1000 genomes]
rs11835626	0.89[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs12313162	0.99[ASN][1000 genomes]
rs12322792	0.97[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs12322860	0.97[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs12578380	0.84[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs12580598	0.92[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs12580879	0.89[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs1320922	0.94[ASN][1000 genomes]
rs1320925	0.94[ASN][1000 genomes]
rs1429622	0.93[ASN][1000 genomes]
rs1506373	0.89[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs1506374	0.81[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs1506375	0.81[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs1652138	0.93[ASN][1000 genomes]
rs1652184	0.94[ASN][1000 genomes]
rs16906208	0.95[ASN][1000 genomes]
rs17464127	0.93[ASN][1000 genomes]
rs17525182	0.99[ASN][1000 genomes]
rs2115689	0.86[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs2115690	0.86[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs2163114	0.86[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs2163115	0.97[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs354138	0.98[ASN][1000 genomes]
rs4032075	0.82[ASN][1000 genomes]
rs4032076	0.97[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs4032077	0.86[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs4032078	0.82[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs4032081	0.88[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs4032082	0.99[ASN][1000 genomes]
rs4032092	0.97[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs4304873	0.89[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs4304874	0.89[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs4426203	0.99[ASN][1000 genomes]
rs4444166	0.81[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs4562911	0.89[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs4564417	0.99[ASN][1000 genomes]
rs58747169	0.81[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs73287069	0.89[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs7358618	0.99[ASN][1000 genomes]
rs7358619	0.81[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs7358666	0.81[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs7485854	0.81[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs7977589	0.89[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs906114	0.89[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs906115	0.89[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs9804786	0.87[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs9804787	0.99[ASN][1000 genomes]
rs9805027	0.89[AFR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832360	chr12:30393329-30555693	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv517916	chr12:30454845-30485611	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	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
4	nsv511500	chr12:30476188-30484684	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
5	nsv522000	chr12:30476188-30485611	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
6	esv3485185	chr12:30477285-30482183	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
7	esv3490343	chr12:30477535-30482033	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases
8	esv3490344	chr12:30477535-30482033	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
9	esv3485251	chr12:30477877-30481400	ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases
10	esv3485240	chr12:30478150-30481100	ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases
11	esv1004876	chr12:30478154-30481285	ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases
12	nsv512261	chr12:30478170-30481099	ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases
13	esv3485196	chr12:30478186-30481046	ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases
14	esv3485207	chr12:30478206-30481066	Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
15	esv3485218	chr12:30478235-30481087	ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases
16	esv3485229	chr12:30478269-30480995	Weak transcription	n/a	n/a	inside rSNPs	diseases
17	esv3485262	chr12:30478269-30480995	Weak transcription	n/a	n/a	inside rSNPs	diseases
18	esv1398361	chr12:30478287-30480993	Weak transcription	n/a	n/a	inside rSNPs	diseases
19	esv1841050	chr12:30478334-30484684	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
20	esv1833779	chr12:30478371-30485611	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
21	esv1834263	chr12:30478371-30485611	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
22	nsv558012	chr12:30478371-30485611	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
23	nsv558013	chr12:30478371-30491382	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
24	nsv558014	chr12:30478371-30492671	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
25	nsv558018	chr12:30478533-30485611	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
26	nsv558021	chr12:30478735-30485611	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases
27	nsv558022	chr12:30478904-30485611	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases
28	nsv558024	chr12:30479039-30485611	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
29	nsv558025	chr12:30479167-30485611	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
30	nsv558027	chr12:30479358-30485611	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
31	nsv558028	chr12:30479535-30485611	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30480600-30482800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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