Variant report

Variant	rs2222468
Chromosome Location	chr11:54836978-54836979
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 114 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10896606	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1114968	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1114969	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11227407	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11228856	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11228860	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1581461	0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1589679	0.93[ASN][1000 genomes]
rs1589680	0.95[ASN][1000 genomes]
rs1589681	0.95[ASN][1000 genomes]
rs1589682	0.95[ASN][1000 genomes]
rs1608411	0.95[ASN][1000 genomes]
rs1608413	0.95[ASN][1000 genomes]
rs1608434	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1851627	0.95[ASN][1000 genomes]
rs1851628	0.95[ASN][1000 genomes]
rs2164121	0.85[AMR][1000 genomes]
rs2204230	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2262536	0.94[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2262538	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2262540	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2335125	0.94[ASN][1000 genomes]
rs2335127	0.95[ASN][1000 genomes]
rs2335129	0.95[ASN][1000 genomes]
rs2335130	0.95[ASN][1000 genomes]
rs2612210	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2612211	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2688708	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2688709	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2688714	0.95[AMR][1000 genomes]
rs2688716	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2688721	0.91[AMR][1000 genomes]
rs2688735	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2688736	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2688744	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2704149	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28765511	0.93[ASN][1000 genomes]
rs28776218	0.94[ASN][1000 genomes]
rs2878346	0.95[ASN][1000 genomes]
rs28796627	0.92[ASN][1000 genomes]
rs28804080	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28806851	0.93[ASN][1000 genomes]
rs28816729	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28818261	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28850113	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs28859658	0.95[ASN][1000 genomes]
rs28859956	0.96[ASN][1000 genomes]
rs28863014	0.95[ASN][1000 genomes]
rs28873372	0.95[ASN][1000 genomes]
rs28876410	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28881932	0.94[ASN][1000 genomes]
rs28889945	0.95[ASN][1000 genomes]
rs34328640	0.90[ASN][1000 genomes]
rs35511915	0.90[ASN][1000 genomes]
rs4045930	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4045942	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4454741	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4619165	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs67338065	0.89[ASN][1000 genomes]
rs9665785	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9666979	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9704664	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs9704838	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv12589	chr11:54694268-55028303	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv821285	chr11:54694268-55028303	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv554612	chr11:54695707-54968423	ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv554613	chr11:54695707-54970593	ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv554614	chr11:54695707-54972854	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv554615	chr11:54695707-55026646	ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv554616	chr11:54695707-55038478	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv554617	chr11:54695707-55058198	ZNF genes & repeats Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv554618	chr11:54695707-55111584	ZNF genes & repeats Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	nsv554655	chr11:54699533-54888433	ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv554656	chr11:54700615-54961685	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv554658	chr11:54711990-54885685	ZNF genes & repeats Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	esv2830215	chr11:54711990-55340379	ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
14	nsv1053153	chr11:54720811-54907154	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv1038993	chr11:54720811-54925400	Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	nsv1054950	chr11:54720811-54931753	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	nsv1049068	chr11:54720811-54935242	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	nsv1035974	chr11:54720811-54935589	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	nsv1043503	chr11:54720811-54940342	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
20	nsv1049385	chr11:54720811-54976429	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
21	nsv1043891	chr11:54720811-54978384	ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
22	nsv1047352	chr11:54720811-55011132	ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
23	nsv1039476	chr11:54720811-55036460	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
24	nsv1044556	chr11:54720811-55039790	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
25	nsv1048711	chr11:54720811-55048272	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
26	nsv1045259	chr11:54720811-55051462	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
27	nsv1052399	chr11:54720811-55060520	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
28	nsv1048402	chr11:54720811-55148163	Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
29	nsv1039155	chr11:54720811-55156607	ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
30	nsv1042875	chr11:54720811-55191418	ZNF genes & repeats Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
31	nsv1038336	chr11:54720811-55213281	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
32	nsv1052144	chr11:54720811-55438474	ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
33	nsv554660	chr11:54763698-54863927	ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
34	nsv554661	chr11:54763698-54875038	ZNF genes & repeats Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
35	nsv1045742	chr11:54773881-54931753	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
36	nsv1041578	chr11:54773881-54935589	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
37	nsv1054501	chr11:54773881-54940342	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
38	nsv1050960	chr11:54773881-54978384	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
39	nsv1041628	chr11:54773881-55011132	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
40	nsv1050392	chr11:54773881-55039790	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
41	nsv1053949	chr11:54773881-55363328	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
42	nsv554662	chr11:54776794-55103617	Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
43	nsv554663	chr11:54813241-54860225	ZNF genes & repeats Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
44	nsv554664	chr11:54813241-54860390	ZNF genes & repeats Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
45	nsv554665	chr11:54813241-54863927	ZNF genes & repeats Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
46	nsv1049336	chr11:54826801-55011132	ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
47	nsv1051643	chr11:54826801-55363328	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
48	esv3495183	chr11:54836005-54837672	ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
49	esv3495184	chr11:54836005-54837672	ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
50	esv3520588	chr11:54836073-54851707	ZNF genes & repeats Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:54831000-54841800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr11:54836200-54837600	ZNF genes & repeats	Liver	Liver
3	chr11:54836600-54837200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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