Variant report

Variant	nsv1055018
Chromosome Location	chr11:55827521-55849944
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	chr11:55834333-55834597	HepG2	liver:	n/a	n/a
2	CEBPB	chr11:55828199-55828299	K562	blood:	n/a	n/a
3	CTCF	chr11:55830312-55830375	GM13976	blood:	n/a	n/a
4	CTCF	chr11:55835352-55835424	ProgFib	skin:	n/a	n/a
5	GTF2F1	chr11:55827611-55827650	H1-hESC	embryonic stem cell:	n/a	n/a
6	JUND	chr11:55828782-55828995	HepG2	liver:	n/a	chr11:55828892-55828902 chr11:55828891-55828903 chr11:55828891-55828902 chr11:55828893-55828900 chr11:55828894-55828905 chr11:55828892-55828901 chr11:55828892-55828902 chr11:55828893-55828902
7	JUND	chr11:55828820-55829020	H1-hESC	embryonic stem cell:	n/a	chr11:55828892-55828902 chr11:55828891-55828903 chr11:55828891-55828902 chr11:55828893-55828900 chr11:55828894-55828905 chr11:55828892-55828901 chr11:55828892-55828902 chr11:55828893-55828902
8	MAFK	chr11:55841139-55841281	IMR90	lung:	n/a	n/a
9	MAFK	chr11:55831263-55831443	HepG2	liver:	n/a	n/a
10	MAX	chr11:55828803-55829033	NB4	blood:	n/a	chr11:55828876-55828886 chr11:55828874-55828889 chr11:55828874-55828887 chr11:55828876-55828886 chr11:55828877-55828884 chr11:55828872-55828887 chr11:55828875-55828886 chr11:55828876-55828885
11	MYC	chr11:55849838-55849948	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr11:55831806-55831917	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr11:55840930-55841099	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr11:55830621-55830770	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr11:55831222-55831419	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr11:55835647-55835847	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr11:55838627-55838881	MCF10A-Er-Src	breast:	n/a	n/a
18	TBL1XR1	chr11:55832600-55832657	GM12878	blood:	n/a	n/a
19	TBL1XR1	chr11:55848153-55848160	K562	blood:	n/a	n/a

Variant related genes	Relation type
OR5J1P	TF binding region
OR5BE1P	TF binding region

Extended variants
information (count: 305 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78800719	chr11:55827553-55827554	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs538158647	chr11:55827568-55827569	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556572058	chr11:55827572-55827573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs545707378	chr11:55827580-55827581	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543288500	chr11:55827599-55827600	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533603381	chr11:55827610-55827611	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs78148636	chr11:55827654-55827655	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573855303	chr11:55827657-55827658	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs181809394	chr11:55827681-55827682	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs114573067	chr11:55827689-55827690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs111995667	chr11:55827728-55827729	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs72911530	chr11:55827731-55827732	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187502772	chr11:55827765-55827766	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7948567	chr11:55827804-55827805	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs544535634	chr11:55827805-55827806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs191485830	chr11:55827819-55827820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs115631439	chr11:55827820-55827821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs559111086	chr11:55827857-55827858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs551073537	chr11:55827858-55827859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs559692913	chr11:55827957-55827958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs182114287	chr11:55828019-55828020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs11227113	chr11:55828024-55828025	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs567564404	chr11:55828025-55828026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs376841842	chr11:55828031-55828032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs186313691	chr11:55828061-55828062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs190288094	chr11:55828070-55828071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs182535676	chr11:55828072-55828073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs533480550	chr11:55828111-55828112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs2512737	chr11:55828131-55828132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs549976945	chr11:55828144-55828145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs186541703	chr11:55828171-55828172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs566029920	chr11:55828179-55828180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs536751173	chr11:55828188-55828189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs570232006	chr11:55828192-55828193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs189801070	chr11:55828227-55828228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs551760811	chr11:55828235-55828236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs562977963	chr11:55828236-55828237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs200625987	chr11:55828237-55828238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs115450472	chr11:55828250-55828251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs7943492	chr11:55828295-55828296	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs549306219	chr11:55828324-55828325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs111985863	chr11:55828352-55828353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs63216062	chr11:55828353-55828354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs11349750	chr11:55828365-55828366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs183787797	chr11:55828399-55828400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs556454117	chr11:55828438-55828439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs80279678	chr11:55828445-55828446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs189199053	chr11:55828450-55828451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs559726058	chr11:55828453-55828454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs374075159	chr11:55828520-55828521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

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
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	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
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:55822800-55834000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:55825200-55828600	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr11:55826000-55827600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr11:55826400-55827600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr11:55826800-55828600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr11:55827200-55827800	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr11:55827200-55827800	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr11:55827600-55827800	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr11:55827600-55829000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr11:55827800-55828800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr11:55828600-55828800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr11:55828600-55829000	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr11:55828800-55829000	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr11:55829000-55830000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr11:55830000-55830200	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr11:55834000-55834200	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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