Variant report

Variant	nsv1053424
Chromosome Location	chr11:55156607-55195277
allele	n/a
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	CEBPB	chr11:55195070-55195304	IMR90	lung:	n/a	chr11:55195175-55195186
2	CEBPB	chr11:55180617-55180678	HepG2	liver:	n/a	n/a
3	CEBPB	chr11:55195039-55195318	HepG2	liver:	n/a	chr11:55195175-55195186
4	CEBPB	chr11:55186537-55186742	HepG2	liver:	n/a	chr11:55186568-55186579
5	CTCF	chr11:55177169-55177258	GM13976	blood:	n/a	n/a
6	CTCF	chr11:55174469-55174553	GM13976	blood:	n/a	n/a
7	CTCF	chr11:55191132-55191201	Lung_OC	lung:	n/a	n/a
8	CTCF	chr11:55164782-55164839	Pancreas_OC	pancreas:	n/a	n/a
9	CTCF	chr11:55186236-55186315	GM10248	blood:	n/a	n/a
10	E2F4	chr11:55171195-55171282	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr11:55186070-55186076	MCF10A-Er-Src	breast:	n/a	n/a
12	FOXA2	chr11:55166277-55166598	A549	lung:	n/a	n/a
13	MAFK	chr11:55187863-55188022	HepG2	liver:	n/a	n/a
14	MAX	chr11:55180605-55180807	NB4	blood:	n/a	n/a
15	POLR2A	chr11:55174073-55174168	GM12878	blood:	n/a	n/a
16	POLR2A	chr11:55170547-55170798	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr11:55171001-55171160	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr11:55166040-55166085	Gliobla	brain:	n/a	n/a
19	POLR2A	chr11:55181507-55181608	MCF10A-Er-Src	breast:	n/a	n/a
20	REST	chr11:55157688-55158043	HL-60	blood:	n/a	n/a
21	REST	chr11:55157615-55158136	HL-60	blood:	n/a	n/a
22	REST	chr11:55157631-55157996	MCF-7	breast:	n/a	n/a
23	REST	chr11:55157665-55158014	PANC-1	pancreas:	n/a	n/a
24	REST	chr11:55157742-55158027	MCF-7	breast:	n/a	n/a
25	STAT3	chr11:55188511-55188711	MCF10A-Er-Src	breast:	n/a	n/a
26	STAT3	chr11:55192205-55192294	MCF10A-Er-Src	breast:	n/a	n/a
27	STAT3	chr11:55183701-55183817	MCF10A-Er-Src	breast:	n/a	n/a
28	USF2	chr11:55180632-55180639	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
OR4A10P	TF binding region
OR4X7P	TF binding region
ENSG00000255493	TF binding region

Extended variants
information (count: 298 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:298 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146505980	chr11:55168234-55168235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs111493649	chr11:55168255-55168256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs192654235	chr11:55168260-55168261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs184178356	chr11:55168300-55168301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs569700577	chr11:55168303-55168304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs113636712	chr11:55168316-55168317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs61917396	chr11:55168323-55168324	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs114947702	chr11:55168338-55168339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs142247117	chr11:55168357-55168358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs189507558	chr11:55168358-55168359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs111507020	chr11:55168375-55168376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs371275230	chr11:55168390-55168391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs181741625	chr11:55168404-55168405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs61917397	chr11:55168405-55168406	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs575662860	chr11:55168454-55168455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs116862730	chr11:55168467-55168468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs368218807	chr11:55168523-55168524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs66654577	chr11:55168539-55168540	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs547362368	chr11:55168554-55168555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs79331342	chr11:55168561-55168562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs562321193	chr11:55168563-55168564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs529527510	chr11:55168577-55168578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs184714655	chr11:55168592-55168593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs569330658	chr11:55168598-55168599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs537185103	chr11:55168613-55168614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs551979193	chr11:55168623-55168624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs140497821	chr11:55168662-55168663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs534275793	chr11:55168671-55168672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs188920266	chr11:55168677-55168678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs11827454	chr11:55168743-55168744	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs538783936	chr11:55168749-55168750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs535285797	chr11:55168757-55168758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs11827472	chr11:55168764-55168765	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs147716089	chr11:55168765-55168766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs546318156	chr11:55168787-55168788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs1216225	chr11:55168790-55168791	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs181666722	chr11:55168820-55168821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs371211838	chr11:55168822-55168823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs532425467	chr11:55168828-55168829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs114813680	chr11:55168838-55168839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs12225944	chr11:55168863-55168864	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs529643753	chr11:55168877-55168878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs186443192	chr11:55168900-55168901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs142504910	chr11:55168902-55168903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs1216224	chr11:55168937-55168938	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs565256636	chr11:55168965-55168966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs11828742	chr11:55170631-55170632	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs542925096	chr11:55170675-55170676	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs114598311	chr11:55170694-55170695	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs531527551	chr11:55170699-55170700	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Renal cell carcinoma	18194544	CNVD
Lung cancer	18438408	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21990379	CNVD
small cell lung cancer	20016488	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	17142309	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Multiple myeloma	16616336	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
Alcoholism	21790672	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Incontinentia Pigmenti	22033527	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Medulloblastoma	21163964	CNVD
Breast cancer	20369283	CNVD
Bipolar disorder	19214233	CNVD
early-passage human iPS cells	21368824	CNVD
Obesity	21131291	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:55168200-55169000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr11:55170600-55173200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
3	chr11:55190600-55191200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell

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