Variant report

Variant	rs12787164
Chromosome Location	chr11:54832441-54832442
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:54832434..54832936-chr2:88315651..88316162,2	Hela-S3	cervix:
2	chr11:54832435..54833937-chr2:88314124..88316426,4	K562	blood:
3	chr11:54831916..54832937-chr2:88315370..88316082,4	MCF-7	breast:
4	chr11:54832434..54832937-chr2:88315431..88316142,3	HCT-116	colon:
5	chr11:54832434..54833936-chr2:88314570..88316990,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000222724	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs12787024	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12789700	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12796636	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12802173	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12804916	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12806129	0.86[AMR][1000 genomes]
rs1851614	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1851615	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs28761320	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28778327	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28811704	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28822225	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28873990	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28896554	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34179570	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34236711	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34301221	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34373130	0.93[AMR][1000 genomes]
rs35456973	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35473011	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35563115	0.93[AMR][1000 genomes]
rs35789111	0.86[AMR][1000 genomes]
rs35995906	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs36182020	0.88[ASN][1000 genomes]
rs4454742	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66662815	0.93[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs66989058	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67317474	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67321261	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs67929427	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71487054	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71487075	0.93[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9666492	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

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	nsv554611	chr11:54695707-54836466	ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	nsv554655	chr11:54699533-54888433	ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	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
13	nsv554658	chr11:54711990-54885685	ZNF genes & repeats Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	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
32	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
33	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
34	nsv554659	chr11:54763698-54836466	ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
35	nsv554660	chr11:54763698-54863927	ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
36	nsv554661	chr11:54763698-54875038	ZNF genes & repeats Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
37	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
38	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
39	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
40	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
41	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
42	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
43	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
44	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
45	nsv554663	chr11:54813241-54860225	ZNF genes & repeats Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
46	nsv554664	chr11:54813241-54860390	ZNF genes & repeats Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
47	nsv554665	chr11:54813241-54863927	ZNF genes & repeats Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
48	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
49	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:54828400-54833800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:54831000-54841800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
3	chr11:54832200-54832600	Active TSS	Brain Substantia Nigra	brain

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