Variant report

Variant	nsv553786
Chromosome Location	chr11:24278379-24290818
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	chr11:24281388-24281661	A549	lung:	n/a	chr11:24281546-24281557 chr11:24281546-24281559
2	CEBPB	chr11:24286523-24286771	H1-hESC	embryonic stem cell:	n/a	chr11:24286614-24286625
3	CEBPB	chr11:24286441-24286782	HepG2	liver:	n/a	chr11:24286614-24286625
4	CEBPB	chr11:24286432-24286807	IMR90	lung:	n/a	chr11:24286614-24286625
5	CEBPB	chr11:24286490-24286757	A549	lung:	n/a	chr11:24286614-24286625
6	CEBPB	chr11:24286473-24286778	K562	blood:	n/a	chr11:24286614-24286625
7	CEBPB	chr11:24286473-24286785	Hela-S3	cervix:	n/a	chr11:24286614-24286625
8	E2F4	chr11:24279320-24279780	MCF10A-Er-Src	breast:	n/a	chr11:24279387-24279396
9	FOS	chr11:24286556-24286734	MCF10A-Er-Src	breast:	n/a	n/a
10	GATA3	chr11:24284398-24284521	SH-SY5Y	brain:	n/a	n/a
11	GATA3	chr11:24283212-24283310	SH-SY5Y	brain:	n/a	n/a
12	JUND	chr11:24286549-24286605	H1-hESC	embryonic stem cell:	n/a	n/a
13	JUND	chr11:24286486-24286770	HepG2	liver:	n/a	n/a
14	MAX	chr11:24288656-24288870	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr11:24287009-24287280	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr11:24280519-24280675	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr11:24284546-24284557	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr11:24285323-24285505	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr11:24288581-24288891	H1-neurons	neurons:	n/a	n/a
20	POLR2A	chr11:24282526-24282726	MCF10A-Er-Src	breast:	n/a	n/a
21	STAT3	chr11:24278399-24278599	MCF10A-Er-Src	breast:	n/a	n/a
22	STAT3	chr11:24284168-24284410	MCF10A-Er-Src	breast:	n/a	chr11:24284250-24284270

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-17A1.2.1-3	chr11:24279738-24279857	ENSG00000254594
2	lnc-RP11-17A1.2.1-3	chr11:24280945-24281108	ENSG00000254594
3	lnc-RP11-17A1.2.1-3	chr11:24283627-24283764	ENSG00000254594
4	lnc-RP11-17A1.2.1-3	chr11:24283627-24283751	ENSG00000254594
5	lnc-RP11-17A1.2.1-3	chr11:24281464-24281559	ENSG00000254594
6	lnc-RP11-17A1.2.1-3	chr11:24280982-24281108	ENSG00000254594
7	lnc-RP11-17A1.2.1-3	chr11:24281464-24281559	ENSG00000254594

Variant related genes	Relation type
ENSG00000254594	TF binding region

Extended variants
information (count: 392 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:392 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1899537	chr11:24278379-24278380	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs79475764	chr11:24278384-24278385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs543049734	chr11:24278402-24278403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559860049	chr11:24278423-24278424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs149693812	chr11:24278431-24278432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545210193	chr11:24278459-24278460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541917153	chr11:24278496-24278497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs372598586	chr11:24278499-24278500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370975560	chr11:24278510-24278511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565118276	chr11:24278612-24278613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530712713	chr11:24278621-24278622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs145492062	chr11:24278726-24278727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567458102	chr11:24278729-24278730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs559672675	chr11:24278734-24278735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529595644	chr11:24278735-24278736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201412856	chr11:24278768-24278769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546209279	chr11:24278775-24278776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566194178	chr11:24278818-24278819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs77620854	chr11:24278837-24278838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558044680	chr11:24278911-24278912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533069312	chr11:24278927-24278928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192645782	chr11:24278935-24278936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537260159	chr11:24278948-24278949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs77932419	chr11:24279035-24279036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184300662	chr11:24279053-24279054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs527286543	chr11:24279104-24279105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575698488	chr11:24279106-24279107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201322869	chr11:24279123-24279124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs11821417	chr11:24279139-24279140	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs553438748	chr11:24279152-24279153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs148848155	chr11:24279210-24279211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs142948181	chr11:24279238-24279239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200919174	chr11:24279243-24279244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543000570	chr11:24279286-24279287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs78879754	chr11:24279312-24279313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs116869643	chr11:24279317-24279318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2067817	chr11:24279340-24279341	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs187531829	chr11:24279354-24279355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs117198995	chr11:24279359-24279360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2067816	chr11:24279376-24279377	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs546170726	chr11:24279464-24279465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs559741902	chr11:24279511-24279512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561279236	chr11:24279525-24279526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373366572	chr11:24279543-24279544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs192554792	chr11:24279614-24279615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs1031098	chr11:24279681-24279682	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs77155770	chr11:24279708-24279709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184944984	chr11:24279737-24279738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs140049972	chr11:24279763-24279764	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs189054759	chr11:24279797-24279798	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Renal cell carcinoma	18194544	CNVD
Myelofibrosis	22110671	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
Autism	22102821	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:24275400-24288000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr11:24288000-24288600	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr11:24288200-24288600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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