Variant report

Variant	rs12809058
Chromosome Location	chr11:55453638-55453639
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr11:55453476-55453669	T-47D	breast:	n/a	n/a
2	FOXA2	chr11:55453430-55453717	A549	lung:	n/a	n/a
3	FOXA2	chr11:55453309-55453838	A549	lung:	n/a	n/a

Variant related genes	Relation type
ENSG00000254804	TF binding region

Extended variants
information (count: 188 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11230461	0.86[AFR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12361051	0.84[ASN][1000 genomes]
rs12364838	0.88[AFR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12790982	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1812809	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs384577	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:182 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv524091	chr11:54875038-55522549	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv554797	chr11:55035411-55864161	Enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
3	nsv554800	chr11:55083434-55695985	ZNF genes & repeats Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
4	nsv916012	chr11:55084067-55622531	ZNF genes & repeats Active TSS Weak transcription Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	nsv1067779	chr11:55086995-55980406	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
6	nsv491694	chr11:55086995-55980406	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
7	nsv821668	chr11:55153930-55816828	Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
8	esv2758271	chr11:55222420-55621884	Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
9	esv2759828	chr11:55222420-55638112	ZNF genes & repeats Enhancers Active TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
10	nsv916314	chr11:55289861-55495986	ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	nsv554801	chr11:55314151-55624360	Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
12	nsv428256	chr11:55317076-55621884	Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
13	esv2757445	chr11:55339702-55638112	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
14	nsv517440	chr11:55340379-55604412	ZNF genes & repeats Bivalent Enhancer Weak transcription Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
15	nsv972950	chr11:55357920-55479824	ZNF genes & repeats Active TSS Weak transcription Enhancers	TF binding region CpG island lncRNA	8 gene(s)	inside rSNPs	diseases
16	nsv71	chr11:55359025-55470359	ZNF genes & repeats Enhancers Active TSS Weak transcription	TF binding region CpG island lncRNA	7 gene(s)	inside rSNPs	diseases
17	nsv323	chr11:55359025-55470359	ZNF genes & repeats Active TSS Enhancers Weak transcription	TF binding region CpG island lncRNA	7 gene(s)	inside rSNPs	diseases
18	esv2760216	chr11:55359460-55609683	ZNF genes & repeats Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
19	nsv437717	chr11:55359656-55606693	Enhancers ZNF genes & repeats Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
20	nsv467899	chr11:55360213-55460095	ZNF genes & repeats Active TSS Weak transcription Enhancers	TF binding region CpG island lncRNA	7 gene(s)	inside rSNPs	diseases
21	nsv554813	chr11:55360213-55460095	Enhancers Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island lncRNA	7 gene(s)	inside rSNPs	diseases
22	nsv467900	chr11:55360213-55470003	ZNF genes & repeats Weak transcription Enhancers Active TSS	TF binding region CpG island lncRNA	7 gene(s)	inside rSNPs	diseases
23	nsv554814	chr11:55360213-55470003	ZNF genes & repeats Enhancers Weak transcription Active TSS	TF binding region CpG island lncRNA	7 gene(s)	inside rSNPs	diseases
24	nsv1037738	chr11:55361349-55463142	ZNF genes & repeats Active TSS Weak transcription Enhancers	TF binding region CpG island lncRNA	7 gene(s)	inside rSNPs	diseases
25	esv2760311	chr11:55361361-55504356	Weak transcription ZNF genes & repeats Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
26	nsv1038036	chr11:55363328-55463142	Enhancers ZNF genes & repeats Weak transcription Active TSS	TF binding region CpG island lncRNA	7 gene(s)	inside rSNPs	diseases
27	nsv498757	chr11:55364519-55457751	Weak transcription ZNF genes & repeats Active TSS Enhancers	TF binding region CpG island lncRNA	7 gene(s)	inside rSNPs	diseases
28	nsv498758	chr11:55364522-55457751	Active TSS ZNF genes & repeats Enhancers Weak transcription	TF binding region CpG island lncRNA	7 gene(s)	inside rSNPs	diseases
29	nsv825894	chr11:55366898-55460793	ZNF genes & repeats Weak transcription Active TSS Enhancers	TF binding region CpG island lncRNA	7 gene(s)	inside rSNPs	diseases
30	nsv8827	chr11:55367166-55468588	Active TSS Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island lncRNA	7 gene(s)	inside rSNPs	diseases
31	nsv554835	chr11:55367889-55460095	Weak transcription ZNF genes & repeats Active TSS Enhancers	TF binding region CpG island lncRNA	7 gene(s)	inside rSNPs	diseases
32	nsv554836	chr11:55367889-55460788	ZNF genes & repeats Weak transcription Active TSS Enhancers	TF binding region CpG island lncRNA	7 gene(s)	inside rSNPs	diseases
33	nsv554837	chr11:55367889-55465912	Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island lncRNA	7 gene(s)	inside rSNPs	diseases
34	esv3693085	chr11:55367889-55596313	ZNF genes & repeats Weak transcription Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
35	nsv529143	chr11:55368154-55560160	Weak transcription ZNF genes & repeats Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
36	nsv554861	chr11:55369626-55460095	ZNF genes & repeats Active TSS Enhancers Weak transcription	TF binding region CpG island lncRNA	7 gene(s)	inside rSNPs	diseases
37	nsv554862	chr11:55369626-55470003	Active TSS Enhancers ZNF genes & repeats Weak transcription	TF binding region CpG island lncRNA	7 gene(s)	inside rSNPs	diseases
38	nsv554878	chr11:55370325-55460095	Active TSS ZNF genes & repeats Enhancers Weak transcription	TF binding region CpG island lncRNA	7 gene(s)	inside rSNPs	diseases
39	nsv469958	chr11:55371020-55596313	Active TSS ZNF genes & repeats Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
40	nsv468504	chr11:55371021-55460095	Active TSS ZNF genes & repeats Enhancers Weak transcription	TF binding region CpG island lncRNA	7 gene(s)	inside rSNPs	diseases
41	nsv468507	chr11:55371021-55460095	Enhancers Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island lncRNA	7 gene(s)	inside rSNPs	diseases
42	nsv468508	chr11:55371021-55460095	Weak transcription Active TSS ZNF genes & repeats Enhancers	TF binding region CpG island lncRNA	7 gene(s)	inside rSNPs	diseases
43	nsv468509	chr11:55371021-55460095	Active TSS ZNF genes & repeats Enhancers Weak transcription	TF binding region CpG island lncRNA	7 gene(s)	inside rSNPs	diseases
44	nsv468510	chr11:55371021-55460095	Active TSS Enhancers ZNF genes & repeats Weak transcription	TF binding region CpG island lncRNA	7 gene(s)	inside rSNPs	diseases
45	nsv468511	chr11:55371021-55460095	ZNF genes & repeats Enhancers Weak transcription Active TSS	TF binding region CpG island lncRNA	7 gene(s)	inside rSNPs	diseases
46	nsv468512	chr11:55371021-55460095	ZNF genes & repeats Active TSS Enhancers Weak transcription	TF binding region CpG island lncRNA	7 gene(s)	inside rSNPs	diseases
47	nsv468513	chr11:55371021-55460095	Weak transcription Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island lncRNA	7 gene(s)	inside rSNPs	diseases
48	nsv468514	chr11:55371021-55460095	Active TSS ZNF genes & repeats Enhancers Weak transcription	TF binding region CpG island lncRNA	7 gene(s)	inside rSNPs	diseases
49	nsv468515	chr11:55371021-55460095	Active TSS ZNF genes & repeats Enhancers Weak transcription	TF binding region CpG island lncRNA	7 gene(s)	inside rSNPs	diseases
50	nsv468516	chr11:55371021-55460095	Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island lncRNA	7 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:55453400-55454000	Active TSS	ES-I3 Cell Line	embryonic stem cell

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