Variant report

Variant	nsv963238
Chromosome Location	chr2:62786888-62789584
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	chr2:62788695-62789105	ECC-1	luminal epithelium:	n/a	chr2:62788941-62788952
2	CEBPB	chr2:62788631-62789150	HCT-116	colon:	n/a	chr2:62788941-62788952
3	CEBPB	chr2:62788495-62789133	H1-hESC	embryonic stem cell:	n/a	chr2:62788941-62788952
4	CEBPB	chr2:62788604-62789289	A549	lung:	n/a	chr2:62788941-62788952
5	CEBPB	chr2:62788752-62789088	MCF-7	breast:	n/a	chr2:62788941-62788952
6	CEBPB	chr2:62788620-62789136	K562	blood:	n/a	chr2:62788941-62788952
7	CEBPB	chr2:62788757-62789122	A549	lung:	n/a	chr2:62788941-62788952
8	CEBPB	chr2:62788769-62789037	HepG2	liver:	n/a	chr2:62788941-62788952
9	CEBPB	chr2:62788707-62789112	ECC-1	luminal epithelium:	n/a	chr2:62788941-62788952
10	CEBPB	chr2:62788792-62789001	K562	blood:	n/a	chr2:62788941-62788952
11	CEBPB	chr2:62788663-62789143	A549	lung:	n/a	chr2:62788941-62788952
12	CEBPB	chr2:62788757-62789132	IMR90	lung:	n/a	chr2:62788941-62788952
13	CEBPB	chr2:62788645-62789122	MCF-7	breast:	n/a	chr2:62788941-62788952
14	CEBPB	chr2:62788663-62789197	HCT-116	colon:	n/a	chr2:62788941-62788952
15	CEBPB	chr2:62789544-62790053	HepG2	liver:	n/a	n/a
16	CEBPB	chr2:62788781-62789024	HepG2	liver:	n/a	chr2:62788941-62788952
17	CEBPB	chr2:62788693-62789109	K562	blood:	n/a	chr2:62788941-62788952
18	CEBPB	chr2:62788754-62789125	Hela-S3	cervix:	n/a	chr2:62788941-62788952
19	CEBPB	chr2:62788756-62789130	HepG2	liver:	n/a	chr2:62788941-62788952
20	CTCF	chr2:62786943-62786991	Kidney_OC	kidney:	n/a	n/a
21	FOXA1	chr2:62786694-62786998	HepG2	liver:	n/a	n/a
22	MAFF	chr2:62786798-62787035	K562	blood:	n/a	chr2:62786898-62786916
23	MAFF	chr2:62786728-62787099	HepG2	liver:	n/a	chr2:62786898-62786916
24	MAFK	chr2:62786698-62787091	HepG2	liver:	n/a	chr2:62786901-62786912 chr2:62786900-62786915 chr2:62786901-62786921
25	MAFK	chr2:62786737-62787060	IMR90	lung:	n/a	chr2:62786901-62786912 chr2:62786900-62786915 chr2:62786901-62786921
26	MAFK	chr2:62786819-62787056	K562	blood:	n/a	chr2:62786901-62786912 chr2:62786900-62786915 chr2:62786901-62786921
27	MAFK	chr2:62786725-62787092	HepG2	liver:	n/a	chr2:62786901-62786912 chr2:62786900-62786915 chr2:62786901-62786921
28	MYC	chr2:62788868-62789034	H1-hESC	embryonic stem cell:	n/a	n/a
29	SMC3	chr2:62788858-62789023	HepG2	liver:	n/a	n/a
30	STAT3	chr2:62789373-62789498	MCF10A-Er-Src	breast:	n/a	n/a
31	ZNF384	chr2:62789041-62789042	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:62788813-62788863	GM19239	blood:	n/a
2	chr2:62788813-62788863	ProgFib	skin:	n/a
3	chr2:62788813-62788863	MCF10A-Er-Src	breast:	n/a
4	chr2:62788813-62788863	ovcar-3	ovarian:	n/a
5	chr2:62788813-62788863	NHDF-neo	bronchial:	n/a
6	chr2:62788813-62788863	SKMC	muscle:	n/a
7	chr2:62788813-62788863	HAEpiC	amniotic membrane:	n/a
8	chr2:62788813-62788863	AG04449	skin:	fetal
9	chr2:62788813-62788863	GM12892	blood:	n/a
10	chr2:62788813-62788863	GM06990	blood:	n/a
11	chr2:62788813-62788863	SK-N-MC	brain:	n/a
12	chr2:62788813-62788863	GM12878	blood:	n/a
13	chr2:62788813-62788863	HMEC	breast:	n/a
14	chr2:62788813-62788863	U87	brain:	n/a
15	chr2:62788813-62788863	A549	lung:	n/a
16	chr2:62788813-62788863	HRPEpiC	eye:	n/a
17	chr2:62788813-62788863	HRCEpiC	kidney:	n/a
18	chr2:62788813-62788863	AG09319	gingival:	n/a
19	chr2:62788813-62788863	HCT-116	colon:	n/a
20	chr2:62788813-62788863	BE2_C	brain:	n/a
21	chr2:62788813-62788863	HepG2	liver:	n/a
22	chr2:62788813-62788863	PrEC	prostate:	n/a
23	chr2:62788813-62788863	NHBE	bronchial:	n/a
24	chr2:62788813-62788863	H1-hESC	embryonic stem cell:	embryo
25	chr2:62788813-62788863	LNCaP	prostate:	n/a
26	chr2:62788813-62788863	ECC-1	luminal epithelium:	n/a
27	chr2:62788813-62788863	Hepatocyte	liver:	n/a
28	chr2:62788813-62788863	HL-60	blood:	n/a
29	chr2:62788813-62788863	HCF	heart:	n/a
30	chr2:62788813-62788863	K562	blood:	n/a
31	chr2:62788813-62788863	AG10803	skin:	n/a
32	chr2:62788813-62788863	PANC-1	pancreas:	n/a
33	chr2:62788813-62788863	AoSMC	blood vessel:	n/a
34	chr2:62788813-62788863	NH-A	brain:	n/a
35	chr2:62788813-62788863	PFSK-1	brain:	n/a
36	chr2:62788813-62788863	MCF-7	breast:	n/a
37	chr2:62788813-62788863	Caco-2	colon:	n/a
38	chr2:62788813-62788863	HIPEpiC	eye:	n/a
39	chr2:62788813-62788863	RPTEC	kidney:	n/a
40	chr2:62788813-62788863	HEEpiC	esophagus:	n/a
41	chr2:62788813-62788863	CMK	blood:	n/a
42	chr2:62788813-62788863	NT2-D1	testis:	n/a
43	chr2:62788813-62788863	SK-N-SH_RA	brain:	n/a
44	chr2:62788813-62788863	T-47D	breast:	n/a
45	chr2:62788813-62788863	IMR90	lung:	fetal
46	chr2:62788813-62788863	Hela-S3	cervix:	n/a
47	chr2:62788813-62788863	HPAEpiC	pulmonary alveolar:	n/a
48	chr2:62788813-62788863	BJ	skin:	n/a
49	chr2:62788813-62788863	SAEC	small airway:	n/a
50	chr2:62788813-62788863	HNPCEpiC	eye:	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMEM17-5	chr2:62788193-62788558	NONHSAT071020

Variant related genes	Relation type
RSL24D1P2	TF binding region
RSL24D1P2	CpG island

Extended variants
information (count: 110 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:110 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554214290	chr2:62786904-62786905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs572461793	chr2:62786915-62786916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs539874953	chr2:62786924-62786925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs537955404	chr2:62786935-62786936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs556002571	chr2:62786953-62786954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs558256339	chr2:62786954-62786955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs192596477	chr2:62786988-62786989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs576058073	chr2:62786993-62786994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs576627475	chr2:62787011-62787012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs543212812	chr2:62787015-62787016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs13397398	chr2:62787032-62787033	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs573803439	chr2:62787033-62787034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs558289463	chr2:62787055-62787056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs541312225	chr2:62787059-62787060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs137992790	chr2:62787064-62787065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs149477574	chr2:62787125-62787126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs369374195	chr2:62787137-62787138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs563008787	chr2:62787147-62787148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs146132596	chr2:62787152-62787153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs371297516	chr2:62787171-62787172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs184937033	chr2:62787183-62787184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs535710701	chr2:62787225-62787226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548053531	chr2:62787256-62787257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566403488	chr2:62787273-62787274	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs35505811	chr2:62787305-62787306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540921824	chr2:62787324-62787325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539810122	chr2:62787336-62787337	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544535415	chr2:62787347-62787348	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558194646	chr2:62787366-62787367	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576559678	chr2:62787370-62787371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs138958456	chr2:62787389-62787390	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189107199	chr2:62787417-62787418	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181009541	chr2:62787496-62787497	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573766261	chr2:62787513-62787514	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142293912	chr2:62787616-62787617	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs146394344	chr2:62787628-62787629	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577530193	chr2:62787708-62787709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544561551	chr2:62787738-62787739	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562945622	chr2:62787756-62787757	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187167386	chr2:62787862-62787863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542697443	chr2:62787863-62787864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113356945	chr2:62787889-62787890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs116349547	chr2:62787891-62787892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs148575033	chr2:62787906-62787907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs189617622	chr2:62787913-62787914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369212662	chr2:62787924-62787925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs34545101	chr2:62787930-62787931	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs11901966	chr2:62787937-62787938	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs142813638	chr2:62787944-62787945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369528189	chr2:62787969-62787970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Autism	22579565	CNVD
Autism	16963482	CNVD
Autism	21750575	CNVD
idiopathic intellectual disability	16963482	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Follicular lymphoma	17699855	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:62786600-62787200	Enhancers	HepG2	liver
2	chr2:62787000-62787800	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr2:62787200-62789600	Weak transcription	HepG2	liver
4	chr2:62787800-62791600	Weak transcription	Pancreatic Islets	Pancreatic Islet

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