Variant report

Variant	nsv517849
Chromosome Location	chr11:58129053-58264181
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	ARID3A	chr11:58211864-58211908	HepG2	liver:	n/a	n/a
2	ATF1	chr11:58252907-58253007	K562	blood:	n/a	n/a
3	BACH1	chr11:58213928-58214102	K562	blood:	n/a	n/a
4	BATF	chr11:58263493-58263751	GM12878	blood:	n/a	n/a
5	BHLHE40	chr11:58211746-58212149	HepG2	liver:	n/a	n/a
6	CBX3	chr11:58177572-58177720	K562	blood:	n/a	n/a
7	CBX3	chr11:58239355-58239790	K562	blood:	n/a	n/a
8	CBX3	chr11:58239361-58239724	K562	blood:	n/a	n/a
9	CEBPB	chr11:58242505-58242728	IMR90	lung:	n/a	chr11:58242666-58242677
10	CEBPB	chr11:58242535-58242706	HepG2	liver:	n/a	chr11:58242666-58242677
11	CEBPB	chr11:58233294-58233604	Hela-S3	cervix:	n/a	chr11:58233332-58233349 chr11:58233335-58233346 chr11:58233335-58233348 chr11:58233335-58233348 chr11:58233337-58233346 chr11:58233337-58233348
12	CEBPB	chr11:58233193-58233689	HepG2	liver:	n/a	chr11:58233332-58233349 chr11:58233335-58233346 chr11:58233335-58233348 chr11:58233335-58233348 chr11:58233337-58233346 chr11:58233337-58233348
13	CEBPB	chr11:58217513-58217735	HepG2	liver:	n/a	chr11:58217571-58217582 chr11:58217620-58217631
14	CEBPB	chr11:58233172-58233593	K562	blood:	n/a	chr11:58233332-58233349 chr11:58233335-58233346 chr11:58233335-58233348 chr11:58233335-58233348 chr11:58233337-58233346 chr11:58233337-58233348
15	CEBPB	chr11:58242720-58242730	H1-hESC	embryonic stem cell:	n/a	n/a
16	CEBPB	chr11:58233435-58233566	HepG2	liver:	n/a	n/a
17	CEBPB	chr11:58230884-58231186	HepG2	liver:	n/a	chr11:58231028-58231041 chr11:58231020-58231031
18	CEBPB	chr11:58130366-58130626	HepG2	liver:	n/a	chr11:58130516-58130527
19	CEBPB	chr11:58211898-58212256	HepG2	liver:	n/a	n/a
20	CEBPB	chr11:58130446-58130620	A549	lung:	n/a	chr11:58130516-58130527
21	CEBPB	chr11:58233170-58233697	A549	lung:	n/a	chr11:58233332-58233349 chr11:58233335-58233346 chr11:58233335-58233348 chr11:58233335-58233348 chr11:58233337-58233346 chr11:58233337-58233348
22	CEBPB	chr11:58217488-58217717	A549	lung:	n/a	chr11:58217571-58217582 chr11:58217620-58217631
23	CEBPB	chr11:58160286-58160643	Hela-S3	cervix:	n/a	n/a
24	CEBPB	chr11:58233160-58234028	IMR90	lung:	n/a	chr11:58233332-58233349 chr11:58233335-58233346 chr11:58233335-58233348 chr11:58233335-58233348 chr11:58233337-58233346 chr11:58233337-58233348
25	CEBPB	chr11:58230905-58231179	A549	lung:	n/a	chr11:58231028-58231041 chr11:58231020-58231031
26	CEBPB	chr11:58243806-58244108	HepG2	liver:	n/a	chr11:58243968-58243979
27	CEBPB	chr11:58261654-58261925	Hela-S3	cervix:	n/a	n/a
28	CEBPB	chr11:58242626-58242702	K562	blood:	n/a	chr11:58242666-58242677
29	CEBPB	chr11:58261242-58261987	IMR90	lung:	n/a	n/a
30	CEBPB	chr11:58161684-58162043	Hela-S3	cervix:	n/a	n/a
31	CEBPB	chr11:58243817-58244067	IMR90	lung:	n/a	chr11:58243968-58243979
32	CHD1	chr11:58207083-58207110	GM12878	blood:	n/a	n/a
33	CTCF	chr11:58263632-58263709	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr11:58167682-58167778	Spleen_OC	spleen:	n/a	n/a
35	CTCF	chr11:58237268-58237332	GM10248	blood:	n/a	n/a
36	CTCF	chr11:58263500-58263650	GM06990	blood:	n/a	n/a
37	CTCF	chr11:58162820-58162970	BJ	skin:	n/a	n/a
38	CTCF	chr11:58263645-58263737	GM10248	blood:	n/a	n/a
39	CTCF	chr11:58263720-58263870	WI-38	lung:	n/a	n/a
40	CTCF	chr11:58221651-58221701	GM10248	blood:	n/a	n/a
41	CTCF	chr11:58238721-58238829	GM20000	blood:	n/a	n/a
42	CTCF	chr11:58263560-58263710	Caco-2	colon:	n/a	n/a
43	CTCF	chr11:58237079-58237112	Lung_OC	lung:	n/a	n/a
44	CTCF	chr11:58263625-58263737	K562	blood:	n/a	n/a
45	CTCF	chr11:58263660-58263810	HMF	breast:	n/a	n/a
46	CTCF	chr11:58263620-58263770	AoAF	blood vessel:	n/a	n/a
47	CTCF	chr11:58212751-58212846	Fibrobl	skin:	n/a	n/a
48	CTCF	chr11:58263600-58263750	HEK293	kidney:	n/a	n/a
49	CTCF	chr11:58263580-58263730	GM12872	blood:	n/a	n/a
50	CTCF	chr11:58130961-58131012	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:58171033-58171083	RPTEC	kidney:	n/a
2	chr11:58171033-58171083	RPTEC	kidney:	n/a
3	chr11:58207761-58207811	SK-N-SH_RA	brain:	n/a
4	chr11:58207784-58207834	HNPCEpiC	eye:	n/a
5	chr11:58159947-58159997	AG09319	gingival:	n/a
6	chr11:58170461-58170511	CMK	blood:	n/a
7	chr11:58170461-58170511	SAEC	small airway:	n/a
8	chr11:58189993-58190043	AG04450	lung:	fetal
9	chr11:58170303-58170353	HUVEC	blood vessel:	n/a
10	chr11:58207784-58207834	SK-N-MC	brain:	n/a
11	chr11:58171708-58171758	Hepatocyte	liver:	n/a
12	chr11:58159947-58159997	NH-A	brain:	n/a
13	chr11:58208576-58208626	RPTEC	kidney:	n/a
14	chr11:58262000-58262050	A549	lung:	n/a
15	chr11:58189993-58190043	MCF10A-Er-Src	breast:	n/a
16	chr11:58171033-58171083	HPAEpiC	pulmonary alveolar:	n/a
17	chr11:58170461-58170511	AoSMC	blood vessel:	n/a
18	chr11:58207266-58207316	SKMC	muscle:	n/a
19	chr11:58208576-58208626	Jurkat	blood:	n/a
20	chr11:58171033-58171083	LNCaP	prostate:	n/a
21	chr11:58159947-58159997	GM19239	blood:	n/a
22	chr11:58208367-58208417	HAEpiC	amniotic membrane:	n/a
23	chr11:58170303-58170353	AG04449	skin:	fetal
24	chr11:58171033-58171083	BJ	skin:	n/a
25	chr11:58208367-58208417	HRCEpiC	kidney:	n/a
26	chr11:58207761-58207811	NHDF-neo	bronchial:	n/a
27	chr11:58159947-58159997	HUVEC	blood vessel:	n/a
28	chr11:58207761-58207811	AG09309	skin:	n/a
29	chr11:58171033-58171083	ECC-1	luminal epithelium:	n/a
30	chr11:58170461-58170511	Hela-S3	cervix:	n/a
31	chr11:58207266-58207316	IMR90	lung:	fetal
32	chr11:58262000-58262050	SKMC	muscle:	n/a
33	chr11:58170303-58170353	NHBE	bronchial:	n/a
34	chr11:58262000-58262050	ovcar-3	ovarian:	n/a
35	chr11:58207784-58207834	Hela-S3	cervix:	n/a
36	chr11:58208367-58208417	HEK293	kidney:	embryo
37	chr11:58170461-58170511	AG04449	skin:	fetal
38	chr11:58208367-58208417	AG09309	skin:	n/a
39	chr11:58207784-58207834	GM12891	blood:	n/a
40	chr11:58208367-58208417	U87	brain:	n/a
41	chr11:58171033-58171083	A549	lung:	n/a
42	chr11:58189993-58190043	ovcar-3	ovarian:	n/a
43	chr11:58189993-58190043	RPTEC	kidney:	n/a
44	chr11:58208367-58208417	GM12891	blood:	n/a
45	chr11:58207784-58207834	Hepatocyte	liver:	n/a
46	chr11:58171708-58171758	AG09309	skin:	n/a
47	chr11:58207761-58207811	HL-60	blood:	n/a
48	chr11:58208576-58208626	MCF-7	breast:	n/a
49	chr11:58170461-58170511	GM12878	blood:	n/a
50	chr11:58159947-58159997	HRCEpiC	kidney:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:58201507..58203248-chr11:58204707..58207172,2	K562	blood:
2	chr11:58245426..58248139-chr3:145902493..145905033,2	MCF-7	breast:
3	chr11:58244849..58247132-chr11:58250065..58252889,2	K562	blood:
4	chr11:58201507..58203248-chr11:58204707..58207172,2	K562	blood:
5	chr11:58244849..58247132-chr11:58250065..58252889,2	K562	blood:

Variant related genes	Relation type
OR5B1P	TF binding region
OR5B2	TF binding region
OR5B17	TF binding region
OR5B15P	TF binding region
OR5B3	TF binding region
OR5B12	TF binding region
OR5B1P	CpG island
OR5B2	CpG island
OR5B17	CpG island
OR5B15P	CpG island
OR5B3	CpG island
OR5B12	CpG island

Extended variants
information (count: 1506 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1506 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545993334	chr11:58130192-58130193	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs536522384	chr11:58130198-58130199	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs79231887	chr11:58130203-58130204	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs141209517	chr11:58130204-58130205	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs377119765	chr11:58130208-58130209	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs565395831	chr11:58130227-58130228	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs577448465	chr11:58130230-58130231	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs541516426	chr11:58130373-58130374	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs181201034	chr11:58130437-58130438	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs547042975	chr11:58130443-58130444	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs530099224	chr11:58130460-58130461	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs548612671	chr11:58130466-58130467	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs372679093	chr11:58130523-58130524	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs115389328	chr11:58130536-58130537	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs138104357	chr11:58130544-58130545	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs117397661	chr11:58130628-58130629	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs570687200	chr11:58130629-58130630	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs141713749	chr11:58130637-58130638	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs546279769	chr11:58130644-58130645	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs112149656	chr11:58130657-58130658	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs531135841	chr11:58130969-58130970	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs546082223	chr11:58131006-58131007	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs564378335	chr11:58131015-58131016	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs528622090	chr11:58131035-58131036	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs74563654	chr11:58131043-58131044	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs568118929	chr11:58131068-58131069	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs568737838	chr11:58131107-58131108	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs190721150	chr11:58135253-58135254	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs565256482	chr11:58135261-58135262	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs532901652	chr11:58135305-58135306	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs548059389	chr11:58135323-58135324	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs7113008	chr11:58135332-58135333	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs566537989	chr11:58137218-58137219	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs533303768	chr11:58137910-58137911	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs200385242	chr11:58137923-58137924	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs566492136	chr11:58137924-58137925	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs551382016	chr11:58137932-58137933	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs566660138	chr11:58137941-58137942	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs527451217	chr11:58137974-58137975	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs547096800	chr11:58138007-58138008	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs75332481	chr11:58138020-58138021	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs552788030	chr11:58138035-58138036	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs535541171	chr11:58138037-58138038	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs556978598	chr11:58138117-58138118	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs569360101	chr11:58138119-58138120	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs568909166	chr11:58138154-58138155	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs539748664	chr11:58138158-58138159	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs186073991	chr11:58138235-58138236	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs573399909	chr11:58138280-58138281	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs538472255	chr11:58138285-58138286	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
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
Glioblastoma multiforme	21138945	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Autism	22495309	CNVD
Autism	20808228	CNVD
Breast cancer	17142309	CNVD
Melanoma	17363583	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:137 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:58155400-58155800	Enhancers	HSMMtube	muscle
2	chr11:58155600-58156400	Enhancers	Muscle Satellite Cultured Cells	--
3	chr11:58155800-58160000	Weak transcription	HSMMtube	muscle
4	chr11:58156400-58159000	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr11:58156600-58162800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:58158000-58158200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr11:58158000-58159200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr11:58158200-58162800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:58158400-58158600	Enhancers	Esophagus	oesophagus
10	chr11:58158400-58159800	Enhancers	Placenta Amnion	Placenta Amnion
11	chr11:58158800-58162400	Enhancers	NHLF	lung
12	chr11:58159000-58162200	Enhancers	Osteobl	bone
13	chr11:58159000-58162400	Enhancers	Muscle Satellite Cultured Cells	--
14	chr11:58159200-58160200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr11:58159400-58162200	Enhancers	NHDF-Ad	bronchial
16	chr11:58159600-58162200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr11:58159600-58162400	Enhancers	HMEC	breast
18	chr11:58159800-58162800	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr11:58159800-58163800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr11:58160000-58162200	Enhancers	Hela-S3	cervix
21	chr11:58160000-58162200	Enhancers	HSMMtube	muscle
22	chr11:58160000-58162400	Enhancers	NHEK	skin
23	chr11:58160200-58161400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr11:58160200-58161400	Enhancers	NH-A	brain
25	chr11:58160200-58162400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr11:58160200-58162600	Enhancers	HUVEC	blood vessel
27	chr11:58160200-58163800	Enhancers	HSMM	muscle
28	chr11:58160400-58162200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr11:58160400-58162200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr11:58161400-58162000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr11:58161400-58162000	Weak transcription	NH-A	brain
32	chr11:58162000-58162200	Enhancers	NH-A	brain
33	chr11:58162000-58163200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr11:58162200-58162600	Weak transcription	HSMMtube	muscle
35	chr11:58162200-58163000	Weak transcription	Osteobl	bone
36	chr11:58162400-58162600	Weak transcription	NHEK	skin
37	chr11:58162400-58162600	Weak transcription	NHLF	lung
38	chr11:58162600-58163000	ZNF genes & repeats	HSMMtube	muscle
39	chr11:58162600-58163200	ZNF genes & repeats	NHEK	skin
40	chr11:58162600-58163200	ZNF genes & repeats	NHLF	lung
41	chr11:58162800-58163000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr11:58162800-58163000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr11:58162800-58163000	ZNF genes & repeats	Gastric	stomach
44	chr11:58162800-58163200	Enhancers	Placenta Amnion	Placenta Amnion
45	chr11:58163000-58163600	Weak transcription	HSMMtube	muscle
46	chr11:58163000-58163800	Enhancers	Osteobl	bone
47	chr11:58163600-58163800	Enhancers	HSMMtube	muscle
48	chr11:58174400-58178200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr11:58190200-58190600	Enhancers	Pancreas	Pancrea
50	chr11:58190200-58190600	Active TSS	Spleen	Spleen

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