Variant report

Variant	nsv583195
Chromosome Location	chr2:141415043-141466384
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	BACH1	chr2:141454048-141454388	H1-hESC	embryonic stem cell:	n/a	n/a
2	CBX3	chr2:141452720-141453189	HCT-116	colon:	n/a	n/a
3	CCNT2	chr2:141438605-141438793	K562	blood:	n/a	n/a
4	CEBPB	chr2:141419274-141419355	A549	lung:	n/a	n/a
5	CEBPB	chr2:141422574-141422887	IMR90	lung:	n/a	chr2:141422733-141422742 chr2:141422733-141422742 chr2:141422733-141422744 chr2:141422733-141422742 chr2:141422731-141422742 chr2:141422733-141422742
6	CEBPB	chr2:141438062-141438277	H1-hESC	embryonic stem cell:	n/a	chr2:141438204-141438215 chr2:141438204-141438217
7	CEBPB	chr2:141456329-141456621	IMR90	lung:	n/a	chr2:141456478-141456489
8	CEBPB	chr2:141422596-141422881	A549	lung:	n/a	chr2:141422733-141422742 chr2:141422733-141422742 chr2:141422733-141422744 chr2:141422733-141422742 chr2:141422731-141422742 chr2:141422733-141422742
9	CEBPB	chr2:141436168-141436280	H1-hESC	embryonic stem cell:	n/a	n/a
10	CEBPB	chr2:141456328-141456626	A549	lung:	n/a	chr2:141456478-141456489
11	CEBPB	chr2:141436092-141436417	HepG2	liver:	n/a	n/a
12	CEBPB	chr2:141438069-141438295	A549	lung:	n/a	chr2:141438204-141438215 chr2:141438204-141438217
13	CEBPB	chr2:141452735-141453068	IMR90	lung:	n/a	n/a
14	CEBPB	chr2:141415225-141415654	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr2:141456315-141456644	HepG2	liver:	n/a	chr2:141456478-141456489
16	CEBPB	chr2:141452764-141453058	HepG2	liver:	n/a	n/a
17	CEBPB	chr2:141422561-141422890	HepG2	liver:	n/a	chr2:141422733-141422742 chr2:141422733-141422742 chr2:141422733-141422744 chr2:141422733-141422742 chr2:141422731-141422742 chr2:141422733-141422742
18	CEBPB	chr2:141436201-141436313	K562	blood:	n/a	n/a
19	CEBPB	chr2:141436115-141436374	IMR90	lung:	n/a	n/a
20	CEBPB	chr2:141438056-141438368	IMR90	lung:	n/a	chr2:141438284-141438296 chr2:141438204-141438215 chr2:141438204-141438217
21	CEBPB	chr2:141438025-141438380	HepG2	liver:	n/a	chr2:141438284-141438296 chr2:141438204-141438215 chr2:141438204-141438217
22	CEBPB	chr2:141452680-141453086	Hela-S3	cervix:	n/a	n/a
23	CEBPB	chr2:141452591-141453111	HCT-116	colon:	n/a	n/a
24	CEBPB	chr2:141436083-141436351	A549	lung:	n/a	n/a
25	CEBPB	chr2:141452510-141453235	HCT-116	colon:	n/a	n/a
26	CEBPB	chr2:141438136-141438309	K562	blood:	n/a	chr2:141438284-141438296 chr2:141438204-141438215 chr2:141438204-141438217
27	CHD2	chr2:141415287-141415565	Hela-S3	cervix:	n/a	n/a
28	CTCF	chr2:141454120-141454270	GM12874	blood:	n/a	n/a
29	CTCF	chr2:141454140-141454290	MCF-7	breast:	n/a	n/a
30	CTCF	chr2:141454111-141454332	MCF-7	breast:	n/a	n/a
31	CTCF	chr2:141452963-141452994	A549	lung:	n/a	chr2:141452968-141452984 chr2:141452967-141452985 chr2:141452969-141452990
32	CTCF	chr2:141454096-141454388	MCF-7	breast:	n/a	n/a
33	CTCF	chr2:141454137-141454309	GM19239	blood:	n/a	n/a
34	CTCF	chr2:141452920-141453070	HPAF	blood vessel:	n/a	chr2:141452968-141452984 chr2:141452967-141452985 chr2:141452969-141452990
35	CTCF	chr2:141452886-141453043	MCF-7	breast:	n/a	chr2:141452968-141452984 chr2:141452967-141452985 chr2:141452969-141452990
36	CTCF	chr2:141454118-141454337	A549	lung:	n/a	n/a
37	CTCF	chr2:141454107-141454322	MCF-7	breast:	n/a	n/a
38	CTCF	chr2:141454247-141454288	GM20000	blood:	n/a	n/a
39	CTCF	chr2:141446992-141447055	GM10248	blood:	n/a	n/a
40	CTCF	chr2:141454100-141454250	HMEC	breast:	n/a	n/a
41	CTCF	chr2:141452880-141453030	HMF	breast:	n/a	chr2:141452968-141452984 chr2:141452967-141452985 chr2:141452969-141452990
42	CTCF	chr2:141454100-141454250	HRE	kidney:	n/a	n/a
43	CTCF	chr2:141454052-141454501	MCF-7	breast:	n/a	n/a
44	CTCF	chr2:141452860-141453010	A549	lung:	n/a	chr2:141452968-141452984 chr2:141452967-141452985 chr2:141452969-141452990
45	CTCF	chr2:141454119-141454314	GM19238	blood:	n/a	n/a
46	CTCF	chr2:141452880-141453030	AG10803	skin:	n/a	chr2:141452968-141452984 chr2:141452967-141452985 chr2:141452969-141452990
47	CTCF	chr2:141452820-141452970	RPTEC	kidney:	n/a	n/a
48	CTCF	chr2:141454154-141454335	HepG2	liver:	n/a	n/a
49	CTCF	chr2:141452860-141453010	HCPEpiC	choroid plexus:	n/a	chr2:141452968-141452984 chr2:141452967-141452985 chr2:141452969-141452990
50	CTCF	chr2:141452920-141453070	AG09319	gingival:	n/a	chr2:141452968-141452984 chr2:141452967-141452985 chr2:141452969-141452990

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:141441408-141441458	HPAEpiC	pulmonary alveolar:	n/a
2	chr2:141441479-141441529	NHBE	bronchial:	n/a
3	chr2:141441408-141441458	PANC-1	pancreas:	n/a
4	chr2:141441408-141441458	SK-N-MC	brain:	n/a
5	chr2:141441479-141441529	PFSK-1	brain:	n/a
6	chr2:141441408-141441458	HCT-116	colon:	n/a
7	chr2:141441479-141441529	AG09309	skin:	n/a
8	chr2:141441479-141441529	Caco-2	colon:	n/a
9	chr2:141441408-141441458	HCF	heart:	n/a
10	chr2:141441479-141441529	HRCEpiC	kidney:	n/a
11	chr2:141441408-141441458	AoSMC	blood vessel:	n/a
12	chr2:141441408-141441458	NB4	blood:	n/a
13	chr2:141441479-141441529	Jurkat	blood:	n/a
14	chr2:141441479-141441529	HL-60	blood:	n/a
15	chr2:141441479-141441529	GM12878	blood:	n/a
16	chr2:141441479-141441529	HIPEpiC	eye:	n/a
17	chr2:141441479-141441529	HEK293	kidney:	embryo
18	chr2:141441408-141441458	HUVEC	blood vessel:	n/a
19	chr2:141441479-141441529	BJ	skin:	n/a
20	chr2:141441479-141441529	GM06990	blood:	n/a
21	chr2:141441479-141441529	HCM	heart:	n/a
22	chr2:141441408-141441458	HCPEpiC	choroid plexus:	n/a
23	chr2:141441479-141441529	PrEC	prostate:	n/a
24	chr2:141441479-141441529	Hepatocyte	liver:	n/a
25	chr2:141441479-141441529	HUVEC	blood vessel:	n/a
26	chr2:141441479-141441529	ECC-1	luminal epithelium:	n/a
27	chr2:141441479-141441529	T-47D	breast:	n/a
28	chr2:141441479-141441529	SKMC	muscle:	n/a
29	chr2:141441408-141441458	NHBE	bronchial:	n/a
30	chr2:141441479-141441529	HPAEpiC	pulmonary alveolar:	n/a
31	chr2:141441479-141441529	SK-N-SH_RA	brain:	n/a
32	chr2:141441408-141441458	PFSK-1	brain:	n/a
33	chr2:141441479-141441529	HAEpiC	amniotic membrane:	n/a
34	chr2:141441479-141441529	ovcar-3	ovarian:	n/a
35	chr2:141441479-141441529	IMR90	lung:	fetal
36	chr2:141441408-141441458	NH-A	brain:	n/a
37	chr2:141441408-141441458	PrEC	prostate:	n/a
38	chr2:141441408-141441458	H1-hESC	embryonic stem cell:	embryo
39	chr2:141441408-141441458	IMR90	lung:	fetal
40	chr2:141441408-141441458	HRE	kidney:	n/a
41	chr2:141441479-141441529	SK-N-SH	brain:	n/a
42	chr2:141441479-141441529	H1-hESC	embryonic stem cell:	embryo
43	chr2:141441408-141441458	SK-N-SH_RA	brain:	n/a
44	chr2:141441479-141441529	LNCaP	prostate:	n/a
45	chr2:141441479-141441529	NT2-D1	testis:	n/a
46	chr2:141441408-141441458	HL-60	blood:	n/a
47	chr2:141441408-141441458	ovcar-3	ovarian:	n/a
48	chr2:141441479-141441529	U87	brain:	n/a
49	chr2:141441479-141441529	MCF10A-Er-Src	breast:	n/a
50	chr2:141441479-141441529	K562	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:141462311..141465013-chr2:141470003..141471554,2	K562	blood:
2	chr2:141425529..141427088-chr2:141449758..141451483,2	MCF-7	breast:
3	chr2:141422971..141423545-chr20:53166808..53167673,2	MCF-7	breast:
4	chr2:141432163..141433732-chr2:141435544..141437895,2	MCF-7	breast:
5	chr2:141425529..141427088-chr2:141449758..141451483,2	MCF-7	breast:
6	chr2:141432163..141433732-chr2:141435544..141437895,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000236440	TF binding region
ENSG00000236440	CpG island

Extended variants
information (count: 647 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:647 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13008448	chr2:141415043-141415044	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs577908685	chr2:141415044-141415045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs370982018	chr2:141415095-141415096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs201469907	chr2:141415106-141415107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs112218830	chr2:141415109-141415110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs199992635	chr2:141415121-141415122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs201117071	chr2:141415135-141415136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs377706293	chr2:141415137-141415138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs139644457	chr2:141415138-141415139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs371366599	chr2:141415141-141415142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs55732717	chr2:141415148-141415149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs79047388	chr2:141415149-141415150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs200678219	chr2:141415155-141415156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs55724105	chr2:141415158-141415159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs76530153	chr2:141415163-141415164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs113115495	chr2:141415167-141415168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs75723351	chr2:141415169-141415170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs201884568	chr2:141415173-141415174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs201965293	chr2:141415175-141415176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs28430339	chr2:141415177-141415178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs548312958	chr2:141415187-141415188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs571605649	chr2:141415189-141415190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs372761384	chr2:141415194-141415195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs28709267	chr2:141415195-141415196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs562078341	chr2:141415200-141415201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs28463940	chr2:141415203-141415204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs574082567	chr2:141415213-141415214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs28688041	chr2:141415221-141415222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs28497092	chr2:141415229-141415230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs182442676	chr2:141415233-141415234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs28649111	chr2:141415235-141415236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs570752568	chr2:141415240-141415241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs539654698	chr2:141415275-141415276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs528042080	chr2:141415322-141415323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs546747325	chr2:141415413-141415414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs533724471	chr2:141415492-141415493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs566468548	chr2:141415611-141415612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs11899127	chr2:141415623-141415624	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs555104939	chr2:141415625-141415626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs969109	chr2:141415659-141415660	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs568093597	chr2:141415673-141415674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs186027697	chr2:141415725-141415726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs78871148	chr2:141415777-141415778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs76105716	chr2:141415812-141415813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs368147771	chr2:141415834-141415835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs112434427	chr2:141415879-141415880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs370823973	chr2:141415987-141415988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs540024462	chr2:141415992-141415993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs113045330	chr2:141416035-141416036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs113851970	chr2:141416066-141416067	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	19435819	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma	21080181	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Autism	22543975	CNVD
Cancer	20164920	CNVD
Hypertension	22686481	CNVD
Hypospadia	22686481	CNVD
Intellectual disability	22686481	CNVD
Omphalocele	22686481	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	22341455	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:141413000-141417400	Enhancers	Hela-S3	cervix
2	chr2:141413800-141417200	Enhancers	HUVEC	blood vessel
3	chr2:141414000-141416400	Enhancers	A549	lung
4	chr2:141414200-141418200	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr2:141415400-141415600	Enhancers	Fetal Lung	lung
6	chr2:141416200-141417000	Enhancers	Fetal Kidney	kidney
7	chr2:141416400-141416600	Flanking Active TSS	A549	lung
8	chr2:141416600-141416800	Enhancers	A549	lung
9	chr2:141416800-141417400	Flanking Active TSS	A549	lung
10	chr2:141417000-141420800	Weak transcription	Fetal Kidney	kidney
11	chr2:141417400-141418000	Enhancers	A549	lung
12	chr2:141420400-141421200	Enhancers	Adipose Nuclei	Adipose
13	chr2:141420800-141421200	Enhancers	Fetal Kidney	kidney
14	chr2:141421200-141422000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:141422000-141424400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:141424000-141424800	Enhancers	Dnd41	blood
17	chr2:141424000-141425800	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr2:141424400-141424800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:141424400-141425200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:141425800-141426400	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr2:141426400-141426600	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr2:141452000-141454200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:141452400-141453400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:141452600-141453000	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr2:141452800-141453200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr2:141461400-141461800	Enhancers	Brain Angular Gyrus	brain
27	chr2:141461400-141462200	Enhancers	Cortex derived primary cultured neurospheres	brain

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