Variant report

Variant	nsv582334
Chromosome Location	chr2:79087828-79182821
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	chr2:79144694-79144730	K562	blood:	n/a	n/a
2	BATF	chr2:79156569-79156744	GM12878	blood:	n/a	n/a
3	BATF	chr2:79122109-79122342	GM12878	blood:	n/a	chr2:79122236-79122246 chr2:79122239-79122250
4	CEBPB	chr2:79128808-79129127	HepG2	liver:	n/a	chr2:79128947-79128958
5	CEBPB	chr2:79132108-79132385	Hela-S3	cervix:	n/a	chr2:79132267-79132278 chr2:79132268-79132279 chr2:79132267-79132280 chr2:79132267-79132280 chr2:79132267-79132280
6	CEBPB	chr2:79102798-79103102	K562	blood:	n/a	n/a
7	CEBPB	chr2:79089987-79090141	K562	blood:	n/a	chr2:79090053-79090062 chr2:79090052-79090063
8	CEBPB	chr2:79117553-79117642	HepG2	liver:	n/a	chr2:79117595-79117606
9	CEBPB	chr2:79096056-79096281	K562	blood:	n/a	chr2:79096183-79096194 chr2:79096185-79096196 chr2:79096183-79096196 chr2:79096183-79096196 chr2:79096185-79096196
10	CEBPB	chr2:79136127-79136491	HepG2	liver:	n/a	chr2:79136320-79136328 chr2:79136306-79136317
11	CEBPB	chr2:79176907-79177257	HepG2	liver:	n/a	chr2:79177075-79177086 chr2:79177076-79177085
12	CEBPB	chr2:79132157-79132397	A549	lung:	n/a	chr2:79132267-79132278 chr2:79132268-79132279 chr2:79132267-79132280 chr2:79132267-79132280 chr2:79132267-79132280
13	CEBPB	chr2:79096032-79096336	HepG2	liver:	n/a	chr2:79096183-79096194 chr2:79096185-79096196 chr2:79096183-79096196 chr2:79096183-79096196 chr2:79096185-79096196
14	CEBPB	chr2:79154553-79154899	HepG2	liver:	n/a	chr2:79154726-79154735 chr2:79154725-79154736 chr2:79154726-79154735 chr2:79154726-79154735 chr2:79154726-79154735
15	CEBPB	chr2:79154569-79154870	IMR90	lung:	n/a	chr2:79154726-79154735 chr2:79154725-79154736 chr2:79154726-79154735 chr2:79154726-79154735 chr2:79154726-79154735
16	CEBPB	chr2:79136191-79136412	H1-hESC	embryonic stem cell:	n/a	chr2:79136320-79136328 chr2:79136306-79136317
17	CEBPB	chr2:79154601-79154854	K562	blood:	n/a	chr2:79154726-79154735 chr2:79154725-79154736 chr2:79154726-79154735 chr2:79154726-79154735 chr2:79154726-79154735
18	CEBPB	chr2:79102843-79103077	H1-hESC	embryonic stem cell:	n/a	n/a
19	CEBPB	chr2:79136158-79136422	A549	lung:	n/a	chr2:79136320-79136328 chr2:79136306-79136317
20	CEBPB	chr2:79136147-79136482	HepG2	liver:	n/a	chr2:79136320-79136328 chr2:79136306-79136317
21	CEBPB	chr2:79132096-79132426	HepG2	liver:	n/a	chr2:79132267-79132278 chr2:79132268-79132279 chr2:79132267-79132280 chr2:79132267-79132280 chr2:79132267-79132280
22	CEBPB	chr2:79092549-79092844	H1-hESC	embryonic stem cell:	n/a	n/a
23	CEBPB	chr2:79132102-79132405	IMR90	lung:	n/a	chr2:79132267-79132278 chr2:79132268-79132279 chr2:79132267-79132280 chr2:79132267-79132280 chr2:79132267-79132280
24	CEBPB	chr2:79136153-79136460	Hela-S3	cervix:	n/a	chr2:79136320-79136328 chr2:79136306-79136317
25	CEBPB	chr2:79089932-79090155	H1-hESC	embryonic stem cell:	n/a	chr2:79090053-79090062 chr2:79090052-79090063
26	CEBPB	chr2:79154556-79154826	A549	lung:	n/a	chr2:79154726-79154735 chr2:79154725-79154736 chr2:79154726-79154735 chr2:79154726-79154735 chr2:79154726-79154735
27	CEBPB	chr2:79089900-79090207	HepG2	liver:	n/a	chr2:79090053-79090062 chr2:79090052-79090063
28	CHD2	chr2:79153033-79153035	GM12878	blood:	n/a	n/a
29	CTCF	chr2:79089100-79089250	GM12873	blood:	n/a	n/a
30	CTCF	chr2:79088879-79088926	Lung_OC	lung:	n/a	n/a
31	CTCF	chr2:79088880-79089030	HFF-Myc	foreskin:	n/a	n/a
32	CTCF	chr2:79088756-79088994	Gliobla	brain:	n/a	chr2:79088867-79088885 chr2:79088862-79088883
33	CTCF	chr2:79088760-79088910	HCM	heart:	n/a	chr2:79088867-79088885 chr2:79088862-79088883
34	CTCF	chr2:79088840-79088879	MCF-7	breast:	n/a	n/a
35	CTCF	chr2:79088780-79088930	HRPEpiC	eye:	n/a	chr2:79088867-79088885 chr2:79088862-79088883
36	CTCF	chr2:79088726-79088998	K562	blood:	n/a	chr2:79088867-79088885 chr2:79088862-79088883
37	CTCF	chr2:79088820-79088970	HepG2	liver:	n/a	chr2:79088867-79088885 chr2:79088862-79088883
38	CTCF	chr2:79088800-79088950	K562	blood:	n/a	chr2:79088867-79088885 chr2:79088862-79088883
39	CTCF	chr2:79088820-79088970	HMF	breast:	n/a	chr2:79088867-79088885 chr2:79088862-79088883
40	CTCF	chr2:79088697-79089081	GM12878	blood:	n/a	chr2:79088867-79088885 chr2:79088862-79088883
41	CTCF	chr2:79088780-79088930	Caco-2	colon:	n/a	chr2:79088867-79088885 chr2:79088862-79088883
42	CTCF	chr2:79088760-79088910	HVMF	connective:	n/a	chr2:79088867-79088885 chr2:79088862-79088883
43	CTCF	chr2:79088820-79088970	GM12873	blood:	n/a	chr2:79088867-79088885 chr2:79088862-79088883
44	CTCF	chr2:79088782-79088965	MCF-7	breast:	n/a	chr2:79088867-79088885 chr2:79088862-79088883
45	CTCF	chr2:79088820-79088970	HUVEC	blood vessel:	n/a	chr2:79088867-79088885 chr2:79088862-79088883
46	CTCF	chr2:79088620-79088770	A549	lung:	n/a	n/a
47	CTCF	chr2:79088820-79088970	AG09319	gingival:	n/a	chr2:79088867-79088885 chr2:79088862-79088883
48	CTCF	chr2:79088800-79088950	Caco-2	colon:	n/a	chr2:79088867-79088885 chr2:79088862-79088883
49	CTCF	chr2:79088800-79088950	HepG2	liver:	n/a	chr2:79088867-79088885 chr2:79088862-79088883
50	CTCF	chr2:79088780-79088930	GM12865	blood:	n/a	chr2:79088867-79088885 chr2:79088862-79088883

No.	Distal block	Cell Line	Cell type
1	chr2:79084347..79087300-chr2:79103800..79106466,2	K562	blood:
2	chr2:79151621..79153755-chr2:79157676..79159858,2	K562	blood:
3	chr2:79106389..79108042-chr2:79109132..79111670,2	MCF-7	breast:
4	chr2:79136865..79138621-chr2:79143164..79145984,2	K562	blood:
5	chr2:78899834..78900793-chr2:79088429..79089440,4	MCF-7	breast:
6	chr2:79136865..79138621-chr2:79143164..79145984,2	K562	blood:
7	chr2:78658362..78658925-chr2:79089675..79090181,2	MCF-7	breast:
8	chr2:79151621..79153755-chr2:79157676..79159858,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-REG1B-3	chr2:79102285-79102649	XLOC_002176
2	lnc-REG1B-3	chr2:79107618-79107703	XLOC_002176
3	lnc-REG1B-1	chr2:79146572-79146651	XLOC_002178
4	lnc-REG1B-2	chr2:79107908-79108018	XLOC_002177
5	lnc-REG1B-2	chr2:79108611-79108749	XLOC_002177
6	lnc-REG1B-1	chr2:79157903-79158506	XLOC_002178

Variant related genes	Relation type
RNU6-812P	TF binding region
RNU6-827P	TF binding region
ENSG00000200048	chromatin interactions
ENSG00000202423	chromatin interactions

Extended variants
information (count: 1175 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1175 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4853416	chr2:79087828-79087829	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs112639310	chr2:79087861-79087862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181411170	chr2:79087902-79087903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs76414890	chr2:79087938-79087939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536663459	chr2:79087950-79087951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs4853417	chr2:79087952-79087953	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs576483226	chr2:79087959-79087960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545564661	chr2:79088001-79088002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183814683	chr2:79088034-79088035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs534153215	chr2:79088101-79088102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs577941307	chr2:79088113-79088114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552351725	chr2:79088160-79088161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189125477	chr2:79088187-79088188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560411893	chr2:79088198-79088199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181514874	chr2:79088199-79088200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs148309086	chr2:79088222-79088223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375121260	chr2:79088232-79088233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542609395	chr2:79088244-79088245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562388372	chr2:79088261-79088262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538739159	chr2:79088321-79088322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376030417	chr2:79088349-79088350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556737086	chr2:79088408-79088409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575208291	chr2:79088446-79088447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369268532	chr2:79088465-79088466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186407550	chr2:79088502-79088503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs4853418	chr2:79088516-79088517	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs567228973	chr2:79088525-79088526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376263443	chr2:79088577-79088578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190803603	chr2:79088622-79088623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567960391	chr2:79088662-79088663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs4853419	chr2:79088667-79088668	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs556519211	chr2:79088670-79088671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551499044	chr2:79088734-79088735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs11403432	chr2:79088752-79088753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs397705198	chr2:79088753-79088754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535100117	chr2:79089823-79089824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs548418861	chr2:79089830-79089831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs62155658	chr2:79089854-79089855	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs560497315	chr2:79089855-79089856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs536075756	chr2:79089896-79089897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs556001684	chr2:79089914-79089915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs114622631	chr2:79089940-79089941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs527972607	chr2:79089954-79089955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs538595706	chr2:79089990-79089991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs551820768	chr2:79090067-79090068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs149758162	chr2:79090076-79090077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs77046168	chr2:79090097-79090098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs560835657	chr2:79090104-79090105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs372132252	chr2:79090121-79090122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs551504888	chr2:79090122-79090123	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	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
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	18438408	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Mental retardation	17124404	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17440070	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Breast cancer	16272173	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:79086000-79088800	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr2:79089800-79090200	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr2:79096200-79097800	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr2:79096600-79100800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:79097400-79097800	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr2:79097400-79098600	Enhancers	Primary B cells from cord blood	blood
7	chr2:79097400-79098800	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr2:79097800-79098200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
9	chr2:79097800-79098200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr2:79098200-79098600	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr2:79098200-79099400	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr2:79098600-79098800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr2:79098800-79100000	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr2:79105400-79106800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:79106600-79107400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr2:79110800-79111200	Enhancers	HUVEC	blood vessel
17	chr2:79114400-79115200	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr2:79116000-79116400	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr2:79116200-79116600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr2:79127200-79127600	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr2:79127200-79127600	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr2:79133400-79133600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:79133400-79133800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:79133800-79137400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr2:79136000-79136400	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr2:79136400-79140200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr2:79137400-79138200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:79138200-79143400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr2:79139200-79141200	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr2:79139200-79141200	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr2:79139400-79140800	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr2:79139400-79141400	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr2:79139600-79140600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:79140000-79141000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
35	chr2:79140200-79140600	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr2:79140200-79140800	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr2:79140200-79140800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr2:79140200-79141000	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr2:79143200-79143400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr2:79152800-79153000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr2:79152800-79153000	Enhancers	Fetal Kidney	kidney
42	chr2:79155600-79156000	Active TSS	Monocytes-CD14+_RO01746	blood
43	chr2:79163600-79163800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr2:79163800-79168200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr2:79165800-79166000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr2:79166800-79169000	Enhancers	HUVEC	blood vessel
47	chr2:79167000-79167600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr2:79167000-79168200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr2:79168200-79168400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr2:79178400-79179000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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