Variant report

Variant	nsv459552
Chromosome Location	chr2:141428751-141487897
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	chr2:141438025-141438380	HepG2	liver:	n/a	chr2:141438284-141438296 chr2:141438204-141438215 chr2:141438204-141438217
5	CEBPB	chr2:141481596-141481809	A549	lung:	n/a	chr2:141481674-141481685 chr2:141481674-141481685
6	CEBPB	chr2:141438136-141438309	K562	blood:	n/a	chr2:141438284-141438296 chr2:141438204-141438215 chr2:141438204-141438217
7	CEBPB	chr2:141452764-141453058	HepG2	liver:	n/a	n/a
8	CEBPB	chr2:141472069-141472416	HepG2	liver:	n/a	chr2:141472226-141472237 chr2:141472228-141472239 chr2:141472226-141472239 chr2:141472228-141472239 chr2:141472226-141472239
9	CEBPB	chr2:141436168-141436280	H1-hESC	embryonic stem cell:	n/a	n/a
10	CEBPB	chr2:141452680-141453086	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr2:141472122-141472420	IMR90	lung:	n/a	chr2:141472226-141472237 chr2:141472228-141472239 chr2:141472226-141472239 chr2:141472228-141472239 chr2:141472226-141472239
12	CEBPB	chr2:141436115-141436374	IMR90	lung:	n/a	n/a
13	CEBPB	chr2:141438062-141438277	H1-hESC	embryonic stem cell:	n/a	chr2:141438204-141438215 chr2:141438204-141438217
14	CEBPB	chr2:141456329-141456621	IMR90	lung:	n/a	chr2:141456478-141456489
15	CEBPB	chr2:141436201-141436313	K562	blood:	n/a	n/a
16	CEBPB	chr2:141438056-141438368	IMR90	lung:	n/a	chr2:141438284-141438296 chr2:141438204-141438215 chr2:141438204-141438217
17	CEBPB	chr2:141456315-141456644	HepG2	liver:	n/a	chr2:141456478-141456489
18	CEBPB	chr2:141472155-141472465	Hela-S3	cervix:	n/a	chr2:141472226-141472237 chr2:141472228-141472239 chr2:141472226-141472239 chr2:141472228-141472239 chr2:141472226-141472239
19	CEBPB	chr2:141438069-141438295	A549	lung:	n/a	chr2:141438204-141438215 chr2:141438204-141438217
20	CEBPB	chr2:141436083-141436351	A549	lung:	n/a	n/a
21	CEBPB	chr2:141456328-141456626	A549	lung:	n/a	chr2:141456478-141456489
22	CEBPB	chr2:141436092-141436417	HepG2	liver:	n/a	n/a
23	CEBPB	chr2:141484675-141484912	HepG2	liver:	n/a	chr2:141484756-141484765 chr2:141484756-141484765 chr2:141484754-141484767 chr2:141484756-141484765 chr2:141484755-141484766 chr2:141484756-141484765 chr2:141484754-141484765
24	CEBPB	chr2:141452591-141453111	HCT-116	colon:	n/a	n/a
25	CEBPB	chr2:141452735-141453068	IMR90	lung:	n/a	n/a
26	CEBPB	chr2:141472162-141472375	A549	lung:	n/a	chr2:141472226-141472237 chr2:141472228-141472239 chr2:141472226-141472239 chr2:141472228-141472239 chr2:141472226-141472239
27	CEBPB	chr2:141452510-141453235	HCT-116	colon:	n/a	n/a
28	CTCF	chr2:141477574-141477687	K562	blood:	n/a	n/a
29	CTCF	chr2:141454140-141454290	Caco-2	colon:	n/a	n/a
30	CTCF	chr2:141452886-141453043	MCF-7	breast:	n/a	chr2:141452968-141452984 chr2:141452967-141452985 chr2:141452969-141452990
31	CTCF	chr2:141452790-141453156	MCF-7	breast:	n/a	chr2:141452968-141452984 chr2:141452967-141452985 chr2:141452969-141452990
32	CTCF	chr2:141429100-141429250	RPTEC	kidney:	n/a	n/a
33	CTCF	chr2:141452880-141453030	AG10803	skin:	n/a	chr2:141452968-141452984 chr2:141452967-141452985 chr2:141452969-141452990
34	CTCF	chr2:141452800-141453090	RPTEC	kidney:	n/a	chr2:141452968-141452984 chr2:141452967-141452985 chr2:141452969-141452990
35	CTCF	chr2:141454140-141454290	HCPEpiC	choroid plexus:	n/a	n/a
36	CTCF	chr2:141452853-141453053	IMR90	lung:	n/a	chr2:141452968-141452984 chr2:141452967-141452985 chr2:141452969-141452990
37	CTCF	chr2:141454168-141454270	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chr2:141454160-141454310	WERI-Rb-1	eye:	n/a	n/a
39	CTCF	chr2:141454293-141454334	GM20000	blood:	n/a	n/a
40	CTCF	chr2:141454180-141454330	Caco-2	colon:	n/a	n/a
41	CTCF	chr2:141454168-141454344	LNCaP	prostate:	n/a	n/a
42	CTCF	chr2:141454172-141454331	GM12878	blood:	n/a	n/a
43	CTCF	chr2:141452860-141453010	HMEC	breast:	n/a	chr2:141452968-141452984 chr2:141452967-141452985 chr2:141452969-141452990
44	CTCF	chr2:141452880-141453030	HMF	breast:	n/a	chr2:141452968-141452984 chr2:141452967-141452985 chr2:141452969-141452990
45	CTCF	chr2:141454200-141454350	RPTEC	kidney:	n/a	n/a
46	CTCF	chr2:141454220-141454370	GM12872	blood:	n/a	n/a
47	CTCF	chr2:141454033-141454312	HepG2	liver:	n/a	n/a
48	CTCF	chr2:141452880-141453030	MCF-7	breast:	n/a	chr2:141452968-141452984 chr2:141452967-141452985 chr2:141452969-141452990
49	CTCF	chr2:141452860-141453010	HPAF	blood vessel:	n/a	chr2:141452968-141452984 chr2:141452967-141452985 chr2:141452969-141452990
50	CTCF	chr2:141452882-141453060	MCF-7	breast:	n/a	chr2:141452968-141452984 chr2:141452967-141452985 chr2:141452969-141452990

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:141441479-141441529	GM12878	blood:	n/a
2	chr2:141441408-141441458	SK-N-SH	brain:	n/a
3	chr2:141441479-141441529	HIPEpiC	eye:	n/a
4	chr2:141441408-141441458	PANC-1	pancreas:	n/a
5	chr2:141441408-141441458	HNPCEpiC	eye:	n/a
6	chr2:141441408-141441458	SAEC	small airway:	n/a
7	chr2:141441408-141441458	HRCEpiC	kidney:	n/a
8	chr2:141441479-141441529	HRCEpiC	kidney:	n/a
9	chr2:141441408-141441458	HEK293	kidney:	embryo
10	chr2:141441408-141441458	MCF10A-Er-Src	breast:	n/a
11	chr2:141441408-141441458	HMEC	breast:	n/a
12	chr2:141441408-141441458	HEEpiC	esophagus:	n/a
13	chr2:141441408-141441458	SK-N-MC	brain:	n/a
14	chr2:141441479-141441529	SK-N-SH	brain:	n/a
15	chr2:141441408-141441458	PFSK-1	brain:	n/a
16	chr2:141441479-141441529	HEK293	kidney:	embryo
17	chr2:141441479-141441529	A549	lung:	n/a
18	chr2:141441479-141441529	SAEC	small airway:	n/a
19	chr2:141441479-141441529	ovcar-3	ovarian:	n/a
20	chr2:141441408-141441458	HCT-116	colon:	n/a
21	chr2:141441479-141441529	GM12891	blood:	n/a
22	chr2:141441479-141441529	RPTEC	kidney:	n/a
23	chr2:141441479-141441529	BJ	skin:	n/a
24	chr2:141441479-141441529	CMK	blood:	n/a
25	chr2:141441479-141441529	NB4	blood:	n/a
26	chr2:141441479-141441529	HCPEpiC	choroid plexus:	n/a
27	chr2:141441408-141441458	HPAEpiC	pulmonary alveolar:	n/a
28	chr2:141441408-141441458	IMR90	lung:	fetal
29	chr2:141441408-141441458	NT2-D1	testis:	n/a
30	chr2:141441408-141441458	LNCaP	prostate:	n/a
31	chr2:141441408-141441458	HAEpiC	amniotic membrane:	n/a
32	chr2:141441479-141441529	HMEC	breast:	n/a
33	chr2:141441408-141441458	SKMC	muscle:	n/a
34	chr2:141441408-141441458	CMK	blood:	n/a
35	chr2:141441479-141441529	ProgFib	skin:	n/a
36	chr2:141441479-141441529	AG10803	skin:	n/a
37	chr2:141441479-141441529	AoSMC	blood vessel:	n/a
38	chr2:141441408-141441458	HUVEC	blood vessel:	n/a
39	chr2:141441479-141441529	HAEpiC	amniotic membrane:	n/a
40	chr2:141441479-141441529	AG04449	skin:	fetal
41	chr2:141441408-141441458	U87	brain:	n/a
42	chr2:141441408-141441458	HCPEpiC	choroid plexus:	n/a
43	chr2:141441408-141441458	GM19239	blood:	n/a
44	chr2:141441408-141441458	HCF	heart:	n/a
45	chr2:141441479-141441529	HPAEpiC	pulmonary alveolar:	n/a
46	chr2:141441479-141441529	Caco-2	colon:	n/a
47	chr2:141441479-141441529	HepG2	liver:	n/a
48	chr2:141441479-141441529	HL-60	blood:	n/a
49	chr2:141441408-141441458	NHDF-neo	bronchial:	n/a
50	chr2:141441408-141441458	BE2_C	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:141466926..141469105-chr2:141480476..141482979,2	MCF-7	breast:
2	chr2:141432163..141433732-chr2:141435544..141437895,2	MCF-7	breast:
3	chr2:141469791..141471888-chr2:141475142..141477938,2	MCF-7	breast:
4	chr2:141462311..141465013-chr2:141470003..141471554,2	K562	blood:
5	chr2:141425529..141427088-chr2:141449758..141451483,2	MCF-7	breast:
6	chr2:141462311..141465013-chr2:141470003..141471554,2	K562	blood:
7	chr2:141469791..141471888-chr2:141475142..141477938,2	MCF-7	breast:
8	chr2:141466926..141469105-chr2:141480476..141482979,2	MCF-7	breast:
9	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: 328 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:328 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112362832	chr2:141441481-141441482	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
2	rs10928065	chr2:141441490-141441491	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
3	rs527959898	chr2:141441501-141441502	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
4	rs548019346	chr2:141441503-141441504	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
5	rs561316145	chr2:141441507-141441508	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
6	rs116243672	chr2:141441516-141441517	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
7	rs558797541	chr2:141443182-141443183	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs72981809	chr2:141443183-141443184	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs555637676	chr2:141443198-141443199	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs188470400	chr2:141443227-141443228	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs528091564	chr2:141443263-141443264	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs541101677	chr2:141443278-141443279	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs34914136	chr2:141443365-141443366	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs567059980	chr2:141444951-141444952	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs114972541	chr2:141444981-141444982	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs555520072	chr2:141444984-141444985	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs398104768	chr2:141446042-141446043	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs193115400	chr2:141446074-141446075	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs573832150	chr2:141446100-141446101	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs542461134	chr2:141446130-141446131	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs13422197	chr2:141446159-141446160	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs78962158	chr2:141446161-141446162	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs544305346	chr2:141446194-141446195	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs115547134	chr2:141446235-141446236	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs185630555	chr2:141446264-141446265	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs139477246	chr2:141446271-141446272	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs16844518	chr2:141446282-141446283	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs149741271	chr2:141446308-141446309	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs549656074	chr2:141446359-141446360	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs569476159	chr2:141446377-141446378	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs189349439	chr2:141452006-141452007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs571033884	chr2:141452053-141452054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs540057855	chr2:141452054-141452055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs547203990	chr2:141452077-141452078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs566615317	chr2:141452126-141452127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs535545591	chr2:141452127-141452128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs567249890	chr2:141452162-141452163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs148956366	chr2:141452327-141452328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs143635245	chr2:141452345-141452346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs74963284	chr2:141452354-141452355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs546872314	chr2:141452393-141452394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs566850411	chr2:141452402-141452403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs538970403	chr2:141452418-141452419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs527738060	chr2:141452428-141452429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs549170051	chr2:141452444-141452445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs547217240	chr2:141452483-141452484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs537424593	chr2:141452498-141452499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs148098116	chr2:141452510-141452511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs577852121	chr2:141452519-141452520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs11901574	chr2:141452626-141452627	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:61)

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

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:141452000-141454200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr2:141452400-141453400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:141452600-141453000	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr2:141452800-141453200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:141461400-141461800	Enhancers	Brain Angular Gyrus	brain
6	chr2:141461400-141462200	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr2:141469800-141470200	Active TSS	Skeletal Muscle Male	skeletal muscle
8	chr2:141470000-141470600	Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr2:141470600-141471200	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr2:141471200-141471400	Active TSS	Skeletal Muscle Female	skeletal muscle
11	chr2:141471400-141472200	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr2:141475400-141475800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:141475400-141477400	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr2:141483400-141483800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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