Variant report

Variant	nsv1054955
Chromosome Location	chr11:49007476-49138758
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	chr11:49026623-49026812	K562	blood:	n/a	chr11:49026677-49026686 chr11:49026675-49026688 chr11:49026677-49026686 chr11:49026677-49026686 chr11:49026675-49026686 chr11:49026677-49026688 chr11:49026728-49026739 chr11:49026677-49026686
2	CEBPB	chr11:49026617-49026956	Hela-S3	cervix:	n/a	chr11:49026677-49026686 chr11:49026675-49026688 chr11:49026677-49026686 chr11:49026677-49026686 chr11:49026675-49026686 chr11:49026677-49026688 chr11:49026728-49026739 chr11:49026677-49026686
3	CEBPB	chr11:49026601-49026811	HepG2	liver:	n/a	chr11:49026677-49026686 chr11:49026675-49026688 chr11:49026677-49026686 chr11:49026677-49026686 chr11:49026675-49026686 chr11:49026677-49026688 chr11:49026728-49026739 chr11:49026677-49026686
4	CEBPB	chr11:49131188-49131388	A549	lung:	n/a	n/a
5	CTCF	chr11:49067670-49067676	GM13976	blood:	n/a	n/a
6	CTCF	chr11:49071523-49071763	K562	blood:	n/a	n/a
7	CTCF	chr11:49100463-49100499	Kidney_OC	kidney:	n/a	n/a
8	CTCF	chr11:49085811-49085890	Spleen_OC	spleen:	n/a	n/a
9	CTCF	chr11:49071985-49072040	LNCaP	prostate:	n/a	n/a
10	CTCF	chr11:49067101-49067189	GM13977	blood:	n/a	n/a
11	CTCF	chr11:49007543-49007618	Kidney_OC	kidney:	n/a	n/a
12	CTCF	chr11:49104077-49104129	GM10248	blood:	n/a	n/a
13	CTCF	chr11:49050048-49050098	GM13976	blood:	n/a	n/a
14	CTCF	chr11:49071434-49071865	K562	blood:	n/a	n/a
15	CTCF	chr11:49091372-49091416	GM20000	blood:	n/a	n/a
16	CTCF	chr11:49098901-49098918	Spleen_OC	spleen:	n/a	n/a
17	CTCF	chr11:49067615-49067665	GM13976	blood:	n/a	n/a
18	CTCF	chr11:49080840-49080919	Spleen_OC	spleen:	n/a	n/a
19	CTCF	chr11:49071437-49071480	Kidney_OC	kidney:	n/a	n/a
20	CTCF	chr11:49070398-49070685	K562	blood:	n/a	chr11:49070519-49070537 chr11:49070521-49070534 chr11:49070520-49070536 chr11:49070514-49070535 chr11:49070521-49070534
21	CTCF	chr11:49107115-49107175	GM10248	blood:	n/a	n/a
22	CTCF	chr11:49053116-49053137	LNCaP	prostate:	n/a	n/a
23	CTCF	chr11:49023336-49023420	GM13976	blood:	n/a	n/a
24	CTCF	chr11:49092679-49092714	Medullo	brain:	n/a	chr11:49092683-49092701
25	CTCF	chr11:49098193-49098278	Lung_OC	lung:	n/a	n/a
26	CTCF	chr11:49087338-49087430	Lung_OC	lung:	n/a	n/a
27	CTCF	chr11:49093313-49093371	GM13977	blood:	n/a	n/a
28	CTCF	chr11:49106248-49106299	GM10266	blood:	n/a	n/a
29	CTCF	chr11:49048063-49048097	Kidney_OC	kidney:	n/a	n/a
30	CTCF	chr11:49092621-49092790	A549	lung:	n/a	chr11:49092683-49092701
31	CTCF	chr11:49071540-49071761	LNCaP	prostate:	n/a	n/a
32	CTCF	chr11:49027702-49027760	Kidney_OC	kidney:	n/a	n/a
33	CTCF	chr11:49104378-49104448	GM10266	blood:	n/a	n/a
34	CTCF	chr11:49070401-49070689	K562	blood:	n/a	chr11:49070519-49070537 chr11:49070521-49070534 chr11:49070520-49070536 chr11:49070514-49070535 chr11:49070521-49070534
35	CTCF	chr11:49137381-49137434	Medullo	brain:	n/a	n/a
36	CTCF	chr11:49092004-49092046	GM20000	blood:	n/a	n/a
37	CTCF	chr11:49071340-49071490	HEK293	kidney:	n/a	n/a
38	CTCF	chr11:49067908-49067939	LNCaP	prostate:	n/a	n/a
39	CTCF	chr11:49022831-49022955	GM20000	blood:	n/a	n/a
40	CTCF	chr11:49070403-49070741	K562	blood:	n/a	chr11:49070519-49070537 chr11:49070521-49070534 chr11:49070520-49070536 chr11:49070514-49070535 chr11:49070521-49070534
41	CTCF	chr11:49021780-49021828	Pancreas_OC	pancreas:	n/a	n/a
42	CTCF	chr11:49070476-49070576	K562	blood:	n/a	chr11:49070519-49070537 chr11:49070521-49070534 chr11:49070520-49070536 chr11:49070514-49070535 chr11:49070521-49070534
43	CTCF	chr11:49130096-49130142	GM10248	blood:	n/a	n/a
44	CTCF	chr11:49052021-49052104	GM13976	blood:	n/a	n/a
45	CTCF	chr11:49015556-49015587	GM10248	blood:	n/a	n/a
46	CTCF	chr11:49098521-49098572	GM13976	blood:	n/a	chr11:49098536-49098544
47	CTCF	chr11:49070501-49070571	Pancreas_OC	pancreas:	n/a	chr11:49070519-49070537 chr11:49070521-49070534 chr11:49070520-49070536 chr11:49070514-49070535 chr11:49070521-49070534
48	CTCF	chr11:49089926-49089944	Kidney_OC	kidney:	n/a	n/a
49	CTCF	chr11:49027432-49027531	Lung_OC	lung:	n/a	n/a
50	CTCF	chr11:49048171-49048237	GM20000	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:49049039-49049089	AoSMC	blood vessel:	n/a
2	chr11:49072348-49072398	AG10803	skin:	n/a
3	chr11:49070231-49070281	HMEC	breast:	n/a
4	chr11:49049039-49049089	AoSMC	blood vessel:	n/a
5	chr11:49072348-49072398	AG10803	skin:	n/a
6	chr11:49070231-49070281	HMEC	breast:	n/a
7	chr11:49070637-49070687	NH-A	brain:	n/a
8	chr11:49068653-49068703	H1-hESC	embryonic stem cell:	embryo
9	chr11:49070231-49070281	HCT-116	colon:	n/a
10	chr11:49072348-49072398	MCF-7	breast:	n/a
11	chr11:49128127-49128177	HL-60	blood:	n/a
12	chr11:49123325-49123375	HRPEpiC	eye:	n/a
13	chr11:49070231-49070281	NHDF-neo	bronchial:	n/a
14	chr11:49120127-49120177	K562	blood:	n/a
15	chr11:49070005-49070055	HCF	heart:	n/a
16	chr11:49124791-49124841	NB4	blood:	n/a
17	chr11:49124090-49124140	SK-N-SH_RA	brain:	n/a
18	chr11:49016314-49016364	PANC-1	pancreas:	n/a
19	chr11:49120127-49120177	NB4	blood:	n/a
20	chr11:49123325-49123375	MCF10A-Er-Src	breast:	n/a
21	chr11:49124090-49124140	A549	lung:	n/a
22	chr11:49070005-49070055	HRCEpiC	kidney:	n/a
23	chr11:49123970-49124020	HEEpiC	esophagus:	n/a
24	chr11:49071438-49071488	GM12892	blood:	n/a
25	chr11:49070637-49070687	RPTEC	kidney:	n/a
26	chr11:49017551-49017601	AoSMC	blood vessel:	n/a
27	chr11:49070231-49070281	GM19239	blood:	n/a
28	chr11:49049039-49049089	T-47D	breast:	n/a
29	chr11:49049039-49049089	HUVEC	blood vessel:	n/a
30	chr11:49070231-49070281	GM12878	blood:	n/a
31	chr11:49123325-49123375	HepG2	liver:	n/a
32	chr11:49071438-49071488	HEEpiC	esophagus:	n/a
33	chr11:49081540-49081590	BE2_C	brain:	n/a
34	chr11:49071763-49071813	HRPEpiC	eye:	n/a
35	chr11:49123970-49124020	MCF-7	breast:	n/a
36	chr11:49071763-49071813	NT2-D1	testis:	n/a
37	chr11:49120127-49120177	HRPEpiC	eye:	n/a
38	chr11:49016314-49016364	T-47D	breast:	n/a
39	chr11:49070637-49070687	SAEC	small airway:	n/a
40	chr11:49071763-49071813	HUVEC	blood vessel:	n/a
41	chr11:49071763-49071813	HL-60	blood:	n/a
42	chr11:49070005-49070055	GM12891	blood:	n/a
43	chr11:49071763-49071813	SKMC	muscle:	n/a
44	chr11:49124090-49124140	K562	blood:	n/a
45	chr11:49124791-49124841	HCT-116	colon:	n/a
46	chr11:49068653-49068703	NHDF-neo	bronchial:	n/a
47	chr11:49070637-49070687	NT2-D1	testis:	n/a
48	chr11:49017551-49017601	GM19239	blood:	n/a
49	chr11:49123970-49124020	Jurkat	blood:	n/a
50	chr11:49073835-49073885	GM19239	blood:	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC084851.1-1	chr11:49113956-49114319	NONHSAT021308
2	lnc-TRIM64C-1	chr11:49092304-49092552	NONHSAT021307
3	lnc-AC084851.1-3	chr11:49132308-49132772	NONHSAT021309

Variant related genes	Relation type
UBTFL7	TF binding region
ENSG00000205044	TF binding region
TRIM49B	TF binding region
TRIM51GP	TF binding region
TRIM53CP	TF binding region
TRIM64C	TF binding region
ENSG00000254412	TF binding region
ENSG00000255452	TF binding region
ENSG00000254801	TF binding region
ENSG00000255338	TF binding region
UBTFL7	CpG island
ENSG00000205044	CpG island
TRIM49B	CpG island
TRIM51GP	CpG island
TRIM53CP	CpG island
TRIM64C	CpG island
ENSG00000254412	CpG island
ENSG00000255452	CpG island
ENSG00000254801	CpG island
ENSG00000255338	CpG island

Extended variants
information (count: 298 )
Associated
traits (count: 52 )

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	rs562372723	chr11:49007546-49007547	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs527323120	chr11:49007593-49007594	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs138021705	chr11:49007614-49007615	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs575512435	chr11:49013517-49013518	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs555667907	chr11:49013523-49013524	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs553953534	chr11:49013532-49013533	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs540665894	chr11:49013559-49013560	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs181630250	chr11:49013571-49013572	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs201728799	chr11:49013623-49013624	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs79372372	chr11:49013637-49013638	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs200997676	chr11:49013655-49013656	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs544539006	chr11:49013674-49013675	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs186765795	chr11:49013682-49013683	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs1847643	chr11:49013685-49013686	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs190779541	chr11:49013700-49013701	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs147998527	chr11:49013701-49013702	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs542825003	chr11:49013714-49013715	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs183284863	chr11:49013740-49013741	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs1847644	chr11:49013741-49013742	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs141687688	chr11:49013754-49013755	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs574910608	chr11:49013763-49013764	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs570844776	chr11:49013792-49013793	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs533137117	chr11:49013814-49013815	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs550280915	chr11:49013827-49013828	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs576822082	chr11:49013835-49013836	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs570029177	chr11:49013847-49013848	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs113679899	chr11:49013858-49013859	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs377007180	chr11:49013859-49013860	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs538876207	chr11:49015559-49015560	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs7934118	chr11:49015563-49015564	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs575349129	chr11:49015571-49015572	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs577243378	chr11:49016314-49016315	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
33	rs185142651	chr11:49016315-49016316	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
34	rs12417899	chr11:49017552-49017553	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
35	rs567937855	chr11:49017587-49017588	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
36	rs554186235	chr11:49017601-49017602	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
37	rs147565488	chr11:49041392-49041393	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs534707784	chr11:49041410-49041411	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs551709573	chr11:49041426-49041427	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs571662106	chr11:49041429-49041430	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs374710256	chr11:49041431-49041432	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs531292984	chr11:49041435-49041436	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs557607858	chr11:49041510-49041511	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs534528203	chr11:49041647-49041648	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs58773301	chr11:49041655-49041656	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs187720982	chr11:49041656-49041657	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs115756449	chr11:49041667-49041668	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs368306851	chr11:49041740-49041741	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs4244800	chr11:49041750-49041751	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs546539408	chr11:49041762-49041763	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22581003	CNVD
Breast cancer	21990379	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	17426248	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:49071400-49071600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:49098200-49098600	Enhancers	Liver	Liver
3	chr11:49110400-49112800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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