Variant report

Variant	nsv554392
Chromosome Location	chr11:49845560-50057854
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:536)
CpG islands
(count:1531)
Chromatin interactive
region (count:3)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:536 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:50017185-50017430	HepG2	liver:	n/a	n/a
2	BACH1	chr11:49963039-49963171	K562	blood:	n/a	n/a
3	BATF	chr11:49900778-49901111	GM12878	blood:	n/a	n/a
4	BATF	chr11:49878914-49879252	GM12878	blood:	n/a	n/a
5	BATF	chr11:49851722-49851990	GM12878	blood:	n/a	n/a
6	BATF	chr11:49908260-49908470	GM12878	blood:	n/a	n/a
7	BATF	chr11:49878972-49879182	GM12878	blood:	n/a	n/a
8	BATF	chr11:49908186-49908527	GM12878	blood:	n/a	chr11:49908477-49908487
9	BATF	chr11:49900767-49901127	GM12878	blood:	n/a	n/a
10	BATF	chr11:49851774-49851972	GM12878	blood:	n/a	n/a
11	BCL11A	chr11:49851712-49851919	GM12878	blood:	n/a	n/a
12	BCL11A	chr11:49908148-49908469	GM12878	blood:	n/a	n/a
13	BHLHE40	chr11:50017239-50017377	K562	blood:	n/a	n/a
14	CBX3	chr11:50017158-50017392	K562	blood:	n/a	n/a
15	CBX3	chr11:50017099-50017442	K562	blood:	n/a	n/a
16	CEBPB	chr11:49945528-49945837	HepG2	liver:	n/a	chr11:49945657-49945666 chr11:49945657-49945666 chr11:49945657-49945666 chr11:49945657-49945668 chr11:49945655-49945668 chr11:49945655-49945666 chr11:49945657-49945666
17	CEBPB	chr11:49982821-49983021	HepG2	liver:	n/a	chr11:49982866-49982877
18	CEBPB	chr11:50056041-50056226	HepG2	liver:	n/a	chr11:50056106-50056117
19	CEBPB	chr11:49884315-49884602	HepG2	liver:	n/a	chr11:49884464-49884475
20	CEBPB	chr11:49856098-49856319	HepG2	liver:	n/a	chr11:49856132-49856143
21	CEBPB	chr11:49856090-49856321	IMR90	lung:	n/a	chr11:49856132-49856143
22	CEBPB	chr11:49945526-49945816	IMR90	lung:	n/a	chr11:49945657-49945666 chr11:49945657-49945666 chr11:49945657-49945666 chr11:49945657-49945668 chr11:49945655-49945668 chr11:49945655-49945666 chr11:49945657-49945666
23	CEBPB	chr11:49856078-49856257	A549	lung:	n/a	chr11:49856132-49856143
24	CEBPB	chr11:50047487-50047664	A549	lung:	n/a	n/a
25	CHD2	chr11:50017167-50017356	K562	blood:	n/a	n/a
26	CTCF	chr11:50017200-50017350	AG09309	skin:	n/a	n/a
27	CTCF	chr11:50048487-50048532	LNCaP	prostate:	n/a	n/a
28	CTCF	chr11:50017207-50017420	NHEK	skin:	n/a	n/a
29	CTCF	chr11:50017220-50017370	HCFaa	heart:	n/a	n/a
30	CTCF	chr11:49901673-49901714	Medullo	brain:	n/a	n/a
31	CTCF	chr11:50017050-50017433	K562	blood:	n/a	n/a
32	CTCF	chr11:50017220-50017370	Caco-2	colon:	n/a	n/a
33	CTCF	chr11:50017220-50017370	GM06990	blood:	n/a	n/a
34	CTCF	chr11:50017220-50017370	GM12878	blood:	n/a	n/a
35	CTCF	chr11:49977522-49977530	Kidney_OC	kidney:	n/a	n/a
36	CTCF	chr11:50017260-50017410	HRPEpiC	eye:	n/a	n/a
37	CTCF	chr11:50017120-50017270	HVMF	connective:	n/a	n/a
38	CTCF	chr11:50017240-50017390	HCT-116	colon:	n/a	n/a
39	CTCF	chr11:50017140-50017290	HFF	foreskin:	n/a	n/a
40	CTCF	chr11:49875878-49875995	GM13976	blood:	n/a	n/a
41	CTCF	chr11:49880653-49880696	MCF-7	breast:	n/a	n/a
42	CTCF	chr11:49858342-49858385	LNCaP	prostate:	n/a	n/a
43	CTCF	chr11:50017199-50017412	Pancreas_OC	pancreas:	n/a	n/a
44	CTCF	chr11:50017240-50017390	GM12865	blood:	n/a	n/a
45	CTCF	chr11:50017098-50017433	A549	lung:	n/a	n/a
46	CTCF	chr11:50017132-50017419	A549	lung:	n/a	n/a
47	CTCF	chr11:49953314-49953368	GM13977	blood:	n/a	n/a
48	CTCF	chr11:50017240-50017390	HCM	heart:	n/a	n/a
49	CTCF	chr11:50017240-50017390	HRPEpiC	eye:	n/a	n/a
50	CTCF	chr11:49926569-49926630	Lung_OC	lung:	n/a	n/a

(count:1531 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:49911386-49911436	ECC-1	luminal epithelium:	n/a
2	chr11:49915274-49915324	AoSMC	blood vessel:	n/a
3	chr11:49913230-49913280	HCPEpiC	choroid plexus:	n/a
4	chr11:49917069-49917119	SAEC	small airway:	n/a
5	chr11:49915274-49915324	SK-N-SH_RA	brain:	n/a
6	chr11:49915274-49915324	IMR90	lung:	fetal
7	chr11:49911386-49911436	ECC-1	luminal epithelium:	n/a
8	chr11:49915274-49915324	AoSMC	blood vessel:	n/a
9	chr11:49913230-49913280	HCPEpiC	choroid plexus:	n/a
10	chr11:49917069-49917119	SAEC	small airway:	n/a
11	chr11:49915274-49915324	SK-N-SH_RA	brain:	n/a
12	chr11:49915274-49915324	IMR90	lung:	fetal
13	chr11:49862012-49862062	LNCaP	prostate:	n/a
14	chr11:49872414-49872464	HepG2	liver:	n/a
15	chr11:50005457-50005507	U87	brain:	n/a
16	chr11:50005457-50005507	SAEC	small airway:	n/a
17	chr11:49911386-49911436	GM19239	blood:	n/a
18	chr11:49913230-49913280	PFSK-1	brain:	n/a
19	chr11:49914049-49914099	HEEpiC	esophagus:	n/a
20	chr11:49913230-49913280	AG09319	gingival:	n/a
21	chr11:49875844-49875894	BJ	skin:	n/a
22	chr11:49872169-49872219	BJ	skin:	n/a
23	chr11:49913230-49913280	IMR90	lung:	fetal
24	chr11:49914049-49914099	HRE	kidney:	n/a
25	chr11:49909689-49909739	AG04450	lung:	fetal
26	chr11:49872191-49872241	HUVEC	blood vessel:	n/a
27	chr11:49914985-49915035	GM06990	blood:	n/a
28	chr11:49914049-49914099	GM06990	blood:	n/a
29	chr11:49915371-49915421	HCT-116	colon:	n/a
30	chr11:49914985-49915035	AG04449	skin:	fetal
31	chr11:49917865-49917915	K562	blood:	n/a
32	chr11:49872191-49872241	PrEC	prostate:	n/a
33	chr11:49873682-49873732	HMEC	breast:	n/a
34	chr11:49873813-49873863	HIPEpiC	eye:	n/a
35	chr11:49915274-49915324	H1-hESC	embryonic stem cell:	embryo
36	chr11:49877977-49878027	GM12892	blood:	n/a
37	chr11:49872414-49872464	AG09309	skin:	n/a
38	chr11:49911386-49911436	AG09309	skin:	n/a
39	chr11:50003963-50004013	NB4	blood:	n/a
40	chr11:49875844-49875894	HMEC	breast:	n/a
41	chr11:49917069-49917119	HIPEpiC	eye:	n/a
42	chr11:49974622-49974672	ovcar-3	ovarian:	n/a
43	chr11:49915274-49915324	PANC-1	pancreas:	n/a
44	chr11:49875844-49875894	HRE	kidney:	n/a
45	chr11:49873118-49873168	IMR90	lung:	fetal
46	chr11:49915181-49915231	Hepatocyte	liver:	n/a
47	chr11:49915274-49915324	Jurkat	blood:	n/a
48	chr11:50003963-50004013	PFSK-1	brain:	n/a
49	chr11:49914049-49914099	HRCEpiC	kidney:	n/a
50	chr11:50004210-50004260	HUVEC	blood vessel:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr11:49917687..49918187-chr7:157901646..157902182,2	MCF-7	breast:
2	chr11:17658237..17658957-chr11:49872663..49873515,2	MCF-7	breast:
3	chr11:49547545..49548055-chr11:50016701..50017446,2	MCF-7	breast:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR4C13-3	chr11:49904551-49904952	NONHSAT021321
2	lnc-OR4C13-4	chr11:49897694-49898190	NONHSAT021320
3	lnc-OR4C12-7	chr11:49876073-49876325	NONHSAT021319
4	lnc-OR4C13-3	chr11:49905555-49905645	NONHSAT021321
5	lnc-OR4C12-7	chr11:49875632-49875959	NONHSAT021319
6	lnc-OR4C13-4	chr11:49896497-49896595	NONHSAT021320
7	lnc-OR4C12-7	chr11:49880918-49880954	NONHSAT021319
8	lnc-OR4C12-7	chr11:49879271-49879391	NONHSAT021319

No data

Variant related genes	Relation type
TRIM51DP	TF binding region
OR4A1P	TF binding region
TRIM51FP	TF binding region
ENSG00000255111	TF binding region
ENSG00000255214	TF binding region
OR4C13	TF binding region
OR4R3P	TF binding region
ENSG00000255268	TF binding region
ENSG00000254714	TF binding region
OR4A49P	TF binding region
ENSG00000254800	TF binding region
OR4A19P	TF binding region
OR4A18P	TF binding region
ENSG00000255550	TF binding region
OR4C12	TF binding region
TRIM51DP	CpG island
OR4A1P	CpG island
TRIM51FP	CpG island
ENSG00000255111	CpG island
ENSG00000255214	CpG island
OR4C13	CpG island
OR4R3P	CpG island
ENSG00000255268	CpG island
ENSG00000254714	CpG island
OR4A49P	CpG island
ENSG00000254800	CpG island
OR4A19P	CpG island
OR4A18P	CpG island
ENSG00000255550	CpG island
OR4C12	CpG island

Extended variants
information (count: 1937 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:1937 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572305588	chr11:49849466-49849467	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs540530756	chr11:49849495-49849496	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs2222525	chr11:49849613-49849614	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs560229692	chr11:49849621-49849622	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs180801525	chr11:49849625-49849626	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs185665012	chr11:49849635-49849636	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs540988150	chr11:49849638-49849639	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs191099685	chr11:49849640-49849641	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs533233839	chr11:49849646-49849647	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs532433870	chr11:49849802-49849803	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs563419440	chr11:49849825-49849826	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs568402401	chr11:49849837-49849838	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs186610866	chr11:49849868-49849869	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs373069184	chr11:49849876-49849877	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs547358864	chr11:49849924-49849925	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs146246352	chr11:49849925-49849926	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs192386954	chr11:49849935-49849936	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs572493766	chr11:49851077-49851078	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs533167423	chr11:49851121-49851122	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs549862442	chr11:49851125-49851126	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs183582075	chr11:49851145-49851146	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs541115626	chr11:49851154-49851155	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs189920326	chr11:49851160-49851161	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs374832303	chr11:49851747-49851748	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs7925995	chr11:49851763-49851764	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs529615848	chr11:49851767-49851768	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs571756471	chr11:49851769-49851770	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs111722385	chr11:49851794-49851795	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs566317504	chr11:49851836-49851837	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs7926128	chr11:49851841-49851842	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs533691435	chr11:49851847-49851848	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs551956147	chr11:49851855-49851856	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs571381380	chr11:49851857-49851858	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs189830842	chr11:49851860-49851861	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs141799345	chr11:49851899-49851900	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs567148682	chr11:49851911-49851912	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs550452874	chr11:49851933-49851934	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs145540811	chr11:49851950-49851951	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs145277322	chr11:49851958-49851959	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs28545823	chr11:49862012-49862013	Inactive region	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs373133239	chr11:49862025-49862026	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
42	rs189292101	chr11:49862028-49862029	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
43	rs192276748	chr11:49862053-49862054	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
44	rs369804744	chr11:49864299-49864300	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs184258088	chr11:49864304-49864305	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs529886514	chr11:49864331-49864332	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs188321543	chr11:49864332-49864333	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs10466497	chr11:49864381-49864382	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs535390193	chr11:49864389-49864390	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs555394686	chr11:49864432-49864433	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
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Mortal	21835882	CNVD
Autism	22495309	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:49872200-49874000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:49872600-49874000	Active TSS	Pancreas	Pancrea
3	chr11:49873400-49874000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr11:49887800-49888200	Active TSS	Fetal Heart	heart
5	chr11:49913600-49914600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:49913800-49914200	ZNF genes & repeats	Pancreas	Pancrea
7	chr11:49913800-49914600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:49919000-49920600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr11:49919600-49919800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
10	chr11:49963600-49964600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr11:49963600-49964800	ZNF genes & repeats	Adipose Nuclei	Adipose
12	chr11:49963800-49964200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:49964200-49964600	Active TSS	Fetal Heart	heart
14	chr11:49982800-49984200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
15	chr11:50003400-50003800	Active TSS	Brain Substantia Nigra	brain
16	chr11:50039200-50040600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr11:50040600-50049200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr11:50047400-50047600	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr11:50049200-50049600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr11:50049600-50054400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr11:50054400-50058600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr11:50056000-50056400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr11:50057400-50058000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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