Variant report

Variant	rs540216
Chromosome Location	chr11:51398260-51398261
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11246521	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11246522	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4275618	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4561198	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs471105	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs509176	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs526697	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs534620	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs538664	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs540336	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs546192	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs547549	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs557633	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9795430	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047636	chr11:50417549-51410459	ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv897550	chr11:50522307-51412453	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	esv1809768	chr11:50566719-51426645	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv1046048	chr11:50637245-51564415	ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv1836242	chr11:50642550-51446535	ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv897571	chr11:50730482-51400197	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv897572	chr11:50730482-51456554	Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv897573	chr11:50730482-51538376	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv897574	chr11:50730482-51559259	ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv897575	chr11:50730482-51579085	ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	nsv1053373	chr11:51095992-51564415	ZNF genes & repeats Active TSS Enhancers Weak transcription	TF binding region CpG island lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv554427	chr11:51095992-51580203	ZNF genes & repeats Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
13	nsv897582	chr11:51127089-51579085	ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
14	nsv1046059	chr11:51176562-51564415	ZNF genes & repeats Enhancers Active TSS Weak transcription	TF binding region CpG island lncRNA	12 gene(s)	inside rSNPs	diseases
15	nsv1036886	chr11:51183682-51564415	ZNF genes & repeats Active TSS Weak transcription Enhancers	TF binding region CpG island lncRNA	12 gene(s)	inside rSNPs	diseases
16	esv1836283	chr11:51183814-51412453	ZNF genes & repeats Active TSS Enhancers	TF binding region CpG island	3 gene(s)	inside rSNPs	diseases
17	esv1806314	chr11:51183814-51429291	ZNF genes & repeats Active TSS Enhancers	TF binding region CpG island	4 gene(s)	inside rSNPs	diseases
18	esv1793228	chr11:51183814-51446535	ZNF genes & repeats Active TSS Enhancers	TF binding region CpG island	5 gene(s)	inside rSNPs	diseases
19	nsv554434	chr11:51183814-51593877	ZNF genes & repeats Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
20	nsv554440	chr11:51187354-51578097	ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
21	esv2751029	chr11:51192824-51563636	ZNF genes & repeats Active TSS Enhancers Weak transcription	TF binding region CpG island lncRNA	12 gene(s)	inside rSNPs	diseases
22	esv2755032	chr11:51192870-51429291	ZNF genes & repeats Active TSS Enhancers	TF binding region CpG island	4 gene(s)	inside rSNPs	diseases
23	nsv1044063	chr11:51192870-51564415	ZNF genes & repeats Active TSS Weak transcription Enhancers	TF binding region CpG island lncRNA	12 gene(s)	inside rSNPs	diseases
24	nsv1051064	chr11:51195051-51500015	ZNF genes & repeats Weak transcription Active TSS Enhancers	TF binding region CpG island lncRNA	10 gene(s)	inside rSNPs	diseases
25	nsv1036334	chr11:51195051-51551394	ZNF genes & repeats Enhancers Active TSS Weak transcription	TF binding region CpG island lncRNA	12 gene(s)	inside rSNPs	diseases
26	nsv1045774	chr11:51205141-51564415	ZNF genes & repeats Active TSS Weak transcription Enhancers	TF binding region CpG island lncRNA	12 gene(s)	inside rSNPs	diseases
27	nsv1048401	chr11:51215424-51564415	Active TSS ZNF genes & repeats Enhancers Weak transcription	TF binding region CpG island lncRNA	12 gene(s)	inside rSNPs	diseases
28	nsv1054282	chr11:51228076-51564415	ZNF genes & repeats Weak transcription Enhancers Active TSS	TF binding region CpG island lncRNA	12 gene(s)	inside rSNPs	diseases
29	nsv1040974	chr11:51267021-51564415	ZNF genes & repeats Weak transcription Enhancers Active TSS	TF binding region CpG island lncRNA	12 gene(s)	inside rSNPs	diseases
30	nsv897586	chr11:51314773-51456554	ZNF genes & repeats Enhancers Active TSS Weak transcription	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
31	nsv1048850	chr11:51337062-51564415	Enhancers ZNF genes & repeats Weak transcription Active TSS	TF binding region CpG island lncRNA	11 gene(s)	inside rSNPs	diseases
32	nsv554486	chr11:51347668-51403303	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
33	esv1809643	chr11:51347668-51426645	ZNF genes & repeats Enhancers	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
34	esv1814852	chr11:51347668-51426645	ZNF genes & repeats Enhancers	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
35	nsv554487	chr11:51347668-51435002	Enhancers ZNF genes & repeats	TF binding region CpG island	3 gene(s)	inside rSNPs	diseases
36	esv1849593	chr11:51347668-51483139	Enhancers ZNF genes & repeats Active TSS Weak transcription	TF binding region CpG island lncRNA	9 gene(s)	inside rSNPs	diseases
37	nsv1041340	chr11:51357233-51564415	ZNF genes & repeats Enhancers Weak transcription Active TSS	TF binding region CpG island lncRNA	11 gene(s)	inside rSNPs	diseases
38	nsv554587	chr11:51362490-51581931	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
39	nsv554588	chr11:51365437-51582380	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
40	nsv554589	chr11:51365437-51593877	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
41	nsv467884	chr11:51372036-51529002	Weak transcription ZNF genes & repeats Enhancers Active TSS	TF binding region CpG island lncRNA	11 gene(s)	inside rSNPs	diseases
42	nsv467885	chr11:51372036-51529002	Enhancers Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island lncRNA	11 gene(s)	inside rSNPs	diseases
43	nsv554590	chr11:51372036-51529002	Enhancers Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island lncRNA	11 gene(s)	inside rSNPs	diseases
44	nsv554591	chr11:51372036-51591253	ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
45	nsv1048422	chr11:51375310-51564415	ZNF genes & repeats Active TSS Weak transcription Enhancers	TF binding region CpG island lncRNA	11 gene(s)	inside rSNPs	diseases
46	nsv971946	chr11:51378016-51458657	Weak transcription Enhancers	TF binding region CpG island lncRNA	7 gene(s)	inside rSNPs	n/a
47	nsv832151	chr11:51378059-51565349	ZNF genes & repeats Enhancers Active TSS Weak transcription	TF binding region CpG island lncRNA	11 gene(s)	inside rSNPs	diseases
48	nsv983019	chr11:51394627-51411480	Enhancers	TF binding region	1 gene(s)	inside rSNPs	n/a
49	esv3412583	chr11:51394976-51400049	Enhancers	TF binding region	1 gene(s)	inside rSNPs	n/a
50	esv3339587	chr11:51395326-51399424	Enhancers	TF binding region	1 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:51398200-51400000	Enhancers	Dnd41	blood

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