Variant report

Variant	rs11050447
Chromosome Location	chr12:29959145-29959146
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10743676	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10743677	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10771582	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10843509	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10843513	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10843517	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10843518	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10843523	0.88[ASN][1000 genomes]
rs11050438	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11050442	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11050452	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11050458	0.96[ASN][1000 genomes]
rs11050482	0.81[ASN][1000 genomes]
rs11050483	0.81[ASN][1000 genomes]
rs12581400	0.81[ASN][1000 genomes]
rs1370872	0.81[ASN][1000 genomes]
rs1370873	0.81[ASN][1000 genomes]
rs1438509	0.81[ASN][1000 genomes]
rs1530068	0.81[ASN][1000 genomes]
rs1551929	0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1595523	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1595525	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1595527	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17047	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2118640	0.81[ASN][1000 genomes]
rs2200272	0.81[ASN][1000 genomes]
rs2200273	0.81[ASN][1000 genomes]
rs2350669	0.80[ASN][1000 genomes]
rs55976402	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56248200	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60515177	0.81[ASN][1000 genomes]
rs61343754	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61922604	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6487850	0.81[ASN][1000 genomes]
rs6487851	0.81[ASN][1000 genomes]
rs7132819	0.80[ASN][1000 genomes]
rs7306759	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7952945	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529328	chr12:29692414-30246209	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv898953	chr12:29905322-29989292	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv469191	chr12:29939628-30098770	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv557958	chr12:29939628-30098770	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv557959	chr12:29944670-29959697	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	inside rSNPs	diseases
6	esv15301	chr12:29956430-29960234	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
7	nsv557961	chr12:29956687-29959419	Enhancers	n/a	n/a	inside rSNPs	diseases
8	esv1793972	chr12:29956687-29959567	Enhancers	n/a	n/a	inside rSNPs	diseases
9	esv1799080	chr12:29956687-29959567	Enhancers	n/a	n/a	inside rSNPs	diseases
10	esv1801015	chr12:29956687-29959567	Enhancers	n/a	n/a	inside rSNPs	diseases
11	esv1803861	chr12:29956687-29959567	Enhancers	n/a	n/a	inside rSNPs	diseases
12	nsv557962	chr12:29956687-29959567	Enhancers	n/a	n/a	inside rSNPs	diseases
13	nsv557963	chr12:29956687-29959697	Enhancers	n/a	n/a	inside rSNPs	diseases
14	nsv557964	chr12:29956687-29971416	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
15	esv1791821	chr12:29957034-29959697	Enhancers	n/a	n/a	inside rSNPs	diseases
16	esv1797798	chr12:29957034-29959697	Enhancers	n/a	n/a	inside rSNPs	diseases
17	esv1798426	chr12:29957034-29959697	Enhancers	n/a	n/a	inside rSNPs	diseases
18	esv1799970	chr12:29957034-29959697	Enhancers	n/a	n/a	inside rSNPs	diseases
19	esv1802535	chr12:29957034-29959697	Enhancers	n/a	n/a	inside rSNPs	diseases
20	esv1804095	chr12:29957034-29959697	Enhancers	n/a	n/a	inside rSNPs	diseases
21	nsv557967	chr12:29957068-29959419	Enhancers	n/a	n/a	inside rSNPs	diseases
22	esv1801773	chr12:29957068-29959567	Enhancers	n/a	n/a	inside rSNPs	diseases
23	esv1802355	chr12:29957068-29959567	Enhancers	n/a	n/a	inside rSNPs	diseases
24	nsv557968	chr12:29957068-29959567	Enhancers	n/a	n/a	inside rSNPs	diseases
25	nsv557969	chr12:29957068-29959697	Enhancers	n/a	n/a	inside rSNPs	diseases
26	nsv557970	chr12:29957119-29959419	Enhancers	n/a	n/a	inside rSNPs	diseases
27	nsv557971	chr12:29957172-29959697	Enhancers	n/a	n/a	inside rSNPs	diseases
28	nsv557973	chr12:29957458-29959697	Enhancers	n/a	n/a	inside rSNPs	diseases
29	nsv557974	chr12:29957710-29959567	Enhancers	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	chr12:29958800-29960000	Enhancers	Muscle Satellite Cultured Cells	--

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