Variant report

Variant	nsv553787
Chromosome Location	chr11:24280281-24298455
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	chr11:24286490-24286757	A549	lung:	n/a	chr11:24286614-24286625
3	CEBPB	chr11:24286523-24286771	H1-hESC	embryonic stem cell:	n/a	chr11:24286614-24286625
4	CEBPB	chr11:24286432-24286807	IMR90	lung:	n/a	chr11:24286614-24286625
5	CEBPB	chr11:24286473-24286785	Hela-S3	cervix:	n/a	chr11:24286614-24286625
6	CEBPB	chr11:24286441-24286782	HepG2	liver:	n/a	chr11:24286614-24286625
7	CEBPB	chr11:24286473-24286778	K562	blood:	n/a	chr11:24286614-24286625
8	CTCF	chr11:24294600-24294750	Caco-2	colon:	n/a	n/a
9	EP300	chr11:24293473-24293634	SK-N-SH_RA	brain:	n/a	n/a
10	EP300	chr11:24293076-24293881	SK-N-SH	brain:	n/a	chr11:24293718-24293727
11	FOS	chr11:24286556-24286734	MCF10A-Er-Src	breast:	n/a	n/a
12	GATA2	chr11:24293373-24293708	SH-SY5Y	brain:	n/a	n/a
13	GATA3	chr11:24293268-24293743	SH-SY5Y	brain:	n/a	n/a
14	GATA3	chr11:24284398-24284521	SH-SY5Y	brain:	n/a	n/a
15	GATA3	chr11:24283212-24283310	SH-SY5Y	brain:	n/a	n/a
16	HEY1	chr11:24295228-24295363	HepG2	liver:	n/a	n/a
17	JUN	chr11:24294418-24294540	K562	blood:	n/a	n/a
18	JUND	chr11:24286486-24286770	HepG2	liver:	n/a	n/a
19	JUND	chr11:24286549-24286605	H1-hESC	embryonic stem cell:	n/a	n/a
20	MAX	chr11:24288656-24288870	H1-hESC	embryonic stem cell:	n/a	n/a
21	NFYB	chr11:24295174-24295547	K562	blood:	n/a	n/a
22	NFYB	chr11:24295176-24295540	GM12878	blood:	n/a	n/a
23	POLR2A	chr11:24282526-24282726	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr11:24285323-24285505	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr11:24284546-24284557	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr11:24295251-24295389	HepG2	liver:	n/a	n/a
27	POLR2A	chr11:24291656-24291797	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr11:24280519-24280675	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr11:24287009-24287280	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr11:24288581-24288891	H1-neurons	neurons:	n/a	n/a
31	RFX5	chr11:24292061-24292085	K562	blood:	n/a	n/a
32	STAT3	chr11:24297261-24297337	MCF10A-Er-Src	breast:	n/a	n/a
33	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	chr11:24281464-24281559	ENSG00000254594
2	lnc-RP11-17A1.2.1-3	chr11:24283627-24283751	ENSG00000254594
3	lnc-RP11-17A1.2.1-3	chr11:24283627-24283764	ENSG00000254594
4	lnc-RP11-17A1.2.1-3	chr11:24280982-24281108	ENSG00000254594
5	lnc-RP11-17A1.2.1-3	chr11:24280945-24281108	ENSG00000254594
6	lnc-RP11-17A1.2.1-3	chr11:24281464-24281559	ENSG00000254594

Variant related genes	Relation type
ENSG00000254594	TF binding region

Extended variants
information (count: 357 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:357 , 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	rs7104694	chr11:24280281-24280282	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs189423121	chr11:24280291-24280292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs73438274	chr11:24280322-24280323	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs567906548	chr11:24280403-24280404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs541360865	chr11:24280439-24280440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs118000375	chr11:24280454-24280455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs12785699	chr11:24280489-24280490	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs538995527	chr11:24280500-24280501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556041643	chr11:24280550-24280551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182063791	chr11:24280551-24280552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146895292	chr11:24280552-24280553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185898480	chr11:24280553-24280554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs199705983	chr11:24280561-24280562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541667838	chr11:24280563-24280564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537979932	chr11:24280576-24280577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554339172	chr11:24280579-24280580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs559804634	chr11:24280592-24280593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191923718	chr11:24280610-24280611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7105553	chr11:24280617-24280618	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs12276587	chr11:24280656-24280657	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs577082274	chr11:24280666-24280667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs115099767	chr11:24280687-24280688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545769591	chr11:24280710-24280711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562373548	chr11:24280718-24280719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531434092	chr11:24280742-24280743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541601871	chr11:24280766-24280767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181164240	chr11:24280777-24280778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561776384	chr11:24280822-24280823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368147411	chr11:24280827-24280828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559417148	chr11:24280861-24280862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567133939	chr11:24280900-24280901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7108956	chr11:24280934-24280935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532728010	chr11:24280939-24280940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552520255	chr11:24280951-24280952	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs139061781	chr11:24281035-24281036	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs140423757	chr11:24281066-24281067	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs75038451	chr11:24281072-24281073	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs568239651	chr11:24281090-24281091	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs547058190	chr11:24281098-24281099	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs533707845	chr11:24281108-24281109	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs186657245	chr11:24281109-24281110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577047333	chr11:24281122-24281123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545827098	chr11:24281161-24281162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs191305191	chr11:24281170-24281171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs150399764	chr11:24281324-24281325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575907735	chr11:24281325-24281326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541850111	chr11:24281326-24281327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561737814	chr11:24281349-24281350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs138242363	chr11:24281421-24281422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540812389	chr11:24281450-24281451	Weak transcription	n/a	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:4 , 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
4	chr11:24295800-24296200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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