Variant report

Variant	nsv1051896
Chromosome Location	chr11:49078859-49120388
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:36)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:36 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:49104378-49104448	GM10266	blood:	n/a	n/a
2	CTCF	chr11:49080840-49080919	Spleen_OC	spleen:	n/a	n/a
3	CTCF	chr11:49092621-49092790	A549	lung:	n/a	chr11:49092683-49092701
4	CTCF	chr11:49098901-49098918	Spleen_OC	spleen:	n/a	n/a
5	CTCF	chr11:49093313-49093371	GM13977	blood:	n/a	n/a
6	CTCF	chr11:49087338-49087430	Lung_OC	lung:	n/a	n/a
7	CTCF	chr11:49104077-49104129	GM10248	blood:	n/a	n/a
8	CTCF	chr11:49098521-49098572	GM13976	blood:	n/a	chr11:49098536-49098544
9	CTCF	chr11:49107115-49107175	GM10248	blood:	n/a	n/a
10	CTCF	chr11:49091372-49091416	GM20000	blood:	n/a	n/a
11	CTCF	chr11:49092004-49092046	GM20000	blood:	n/a	n/a
12	CTCF	chr11:49098193-49098278	Lung_OC	lung:	n/a	n/a
13	CTCF	chr11:49092679-49092714	Medullo	brain:	n/a	chr11:49092683-49092701
14	CTCF	chr11:49106248-49106299	GM10266	blood:	n/a	n/a
15	CTCF	chr11:49100463-49100499	Kidney_OC	kidney:	n/a	n/a
16	CTCF	chr11:49089926-49089944	Kidney_OC	kidney:	n/a	n/a
17	CTCF	chr11:49085811-49085890	Spleen_OC	spleen:	n/a	n/a
18	FOS	chr11:49100389-49100651	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr11:49100376-49100608	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr11:49100396-49100622	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr11:49100444-49100609	MCF10A-Er-Src	breast:	n/a	n/a
22	FOSL2	chr11:49080198-49080444	HepG2	liver:	n/a	n/a
23	GTF2F1	chr11:49082600-49082627	H1-hESC	embryonic stem cell:	n/a	n/a
24	MAFF	chr11:49115035-49115204	K562	blood:	n/a	n/a
25	MAFK	chr11:49082489-49082741	HepG2	liver:	n/a	chr11:49082665-49082676
26	MAFK	chr11:49114962-49115242	HepG2	liver:	n/a	chr11:49115099-49115110 chr11:49115099-49115110
27	MAFK	chr11:49105866-49106049	HepG2	liver:	n/a	chr11:49105938-49105954 chr11:49105938-49105949 chr11:49105937-49105951 chr11:49105938-49105949
28	MAFK	chr11:49082560-49082673	HepG2	liver:	n/a	n/a
29	MAFK	chr11:49114977-49115248	IMR90	lung:	n/a	chr11:49115099-49115110 chr11:49115099-49115110
30	MYC	chr11:49099933-49099945	MCF-7	breast:	n/a	n/a
31	MYC	chr11:49109758-49109854	MCF-7	breast:	n/a	n/a
32	POLR2A	chr11:49111693-49111730	MCF10A-Er-Src	breast:	n/a	n/a
33	RCOR1	chr11:49114017-49114169	HepG2	liver:	n/a	n/a
34	STAT3	chr11:49085764-49085948	MCF10A-Er-Src	breast:	n/a	n/a
35	ZKSCAN1	chr11:49088272-49088300	Hela-S3	cervix:	n/a	n/a
36	ZNF384	chr11:49086385-49086422	GM12878	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:49120127-49120177	HAEpiC	amniotic membrane:	n/a
2	chr11:49081540-49081590	Hela-S3	cervix:	n/a
3	chr11:49120127-49120177	HCM	heart:	n/a
4	chr11:49081540-49081590	BE2_C	brain:	n/a
5	chr11:49120127-49120177	A549	lung:	n/a
6	chr11:49081540-49081590	HEK293	kidney:	embryo
7	chr11:49120127-49120177	HNPCEpiC	eye:	n/a
8	chr11:49081540-49081590	HCM	heart:	n/a
9	chr11:49081540-49081590	HNPCEpiC	eye:	n/a
10	chr11:49120127-49120177	AG04450	lung:	fetal
11	chr11:49120127-49120177	BE2_C	brain:	n/a
12	chr11:49081540-49081590	PFSK-1	brain:	n/a
13	chr11:49081540-49081590	SAEC	small airway:	n/a
14	chr11:49120127-49120177	HCPEpiC	choroid plexus:	n/a
15	chr11:49120127-49120177	Caco-2	colon:	n/a
16	chr11:49120127-49120177	HEEpiC	esophagus:	n/a
17	chr11:49081540-49081590	MCF10A-Er-Src	breast:	n/a
18	chr11:49081540-49081590	H1-hESC	embryonic stem cell:	embryo
19	chr11:49081540-49081590	AG04449	skin:	fetal
20	chr11:49120127-49120177	NHDF-neo	bronchial:	n/a
21	chr11:49120127-49120177	HRPEpiC	eye:	n/a
22	chr11:49081540-49081590	K562	blood:	n/a
23	chr11:49081540-49081590	HRCEpiC	kidney:	n/a
24	chr11:49081540-49081590	HPAEpiC	pulmonary alveolar:	n/a
25	chr11:49120127-49120177	PrEC	prostate:	n/a
26	chr11:49081540-49081590	ovcar-3	ovarian:	n/a
27	chr11:49120127-49120177	HEK293	kidney:	embryo
28	chr11:49081540-49081590	HL-60	blood:	n/a
29	chr11:49081540-49081590	CMK	blood:	n/a
30	chr11:49081540-49081590	PANC-1	pancreas:	n/a
31	chr11:49081540-49081590	AG09309	skin:	n/a
32	chr11:49120127-49120177	SK-N-MC	brain:	n/a
33	chr11:49081540-49081590	Caco-2	colon:	n/a
34	chr11:49081540-49081590	HEEpiC	esophagus:	n/a
35	chr11:49120127-49120177	ProgFib	skin:	n/a
36	chr11:49120127-49120177	PFSK-1	brain:	n/a
37	chr11:49120127-49120177	HMEC	breast:	n/a
38	chr11:49081540-49081590	ECC-1	luminal epithelium:	n/a
39	chr11:49081540-49081590	NHDF-neo	bronchial:	n/a
40	chr11:49081540-49081590	MCF-7	breast:	n/a
41	chr11:49120127-49120177	AG09309	skin:	n/a
42	chr11:49120127-49120177	SK-N-SH_RA	brain:	n/a
43	chr11:49120127-49120177	Hela-S3	cervix:	n/a
44	chr11:49120127-49120177	SKMC	muscle:	n/a
45	chr11:49120127-49120177	ovcar-3	ovarian:	n/a
46	chr11:49081540-49081590	HepG2	liver:	n/a
47	chr11:49120127-49120177	AG09319	gingival:	n/a
48	chr11:49120127-49120177	PANC-1	pancreas:	n/a
49	chr11:49120127-49120177	HIPEpiC	eye:	n/a
50	chr11:49081540-49081590	BJ	skin:	n/a

No data

(count:2 , 50 per page) page: 1

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

No data

Variant related genes	Relation type
UBTFL7	TF binding region
ENSG00000254801	TF binding region
TRIM64C	TF binding region
ENSG00000255452	TF binding region
UBTFL7	CpG island
ENSG00000254801	CpG island
TRIM64C	CpG island
ENSG00000255452	CpG island

Extended variants
information (count: 137 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:137 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs193094263	chr11:49080841-49080842	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs185850830	chr11:49080851-49080852	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs187934294	chr11:49080878-49080879	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs557506504	chr11:49080906-49080907	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs574908027	chr11:49081548-49081549	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
6	rs146143141	chr11:49081573-49081574	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
7	rs376720905	chr11:49082494-49082495	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs7940887	chr11:49082562-49082563	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs7940776	chr11:49082563-49082564	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs573444729	chr11:49082567-49082568	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs180735233	chr11:49082659-49082660	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs185135158	chr11:49082701-49082702	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs143836833	chr11:49092316-49092317	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs563031294	chr11:49092334-49092335	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs189104430	chr11:49092410-49092411	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs542483209	chr11:49092411-49092412	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs561807987	chr11:49092426-49092427	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs527424551	chr11:49092430-49092431	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs547343325	chr11:49092499-49092500	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs570370107	chr11:49092509-49092510	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs191250504	chr11:49092626-49092627	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs569658719	chr11:49092666-49092667	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs148170587	chr11:49092677-49092678	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs555174086	chr11:49092775-49092776	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs562432910	chr11:49093319-49093320	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs554685629	chr11:49098243-49098244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs191264762	chr11:49098306-49098307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs540581861	chr11:49098325-49098326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs182935863	chr11:49098329-49098330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs532752211	chr11:49098394-49098395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs187843123	chr11:49098430-49098431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs562556697	chr11:49098463-49098464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs531335472	chr11:49098481-49098482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs548141911	chr11:49098496-49098497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs561538641	chr11:49098513-49098514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs144105163	chr11:49098516-49098517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs547370054	chr11:49098596-49098597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs184543627	chr11:49099939-49099940	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs377693941	chr11:49100376-49100377	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs566262541	chr11:49100384-49100385	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs370660636	chr11:49100423-49100424	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs148305981	chr11:49100462-49100463	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs141332959	chr11:49100492-49100493	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs184546459	chr11:49100501-49100502	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs535648289	chr11:49100510-49100511	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs555947888	chr11:49100559-49100560	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs113590111	chr11:49100580-49100581	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs114221427	chr11:49100593-49100594	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs189516803	chr11:49100645-49100646	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs181519217	chr11:49100650-49100651	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:49)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:49098200-49098600	Enhancers	Liver	Liver
2	chr11:49110400-49112800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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