Variant report

Variant	nsv873848
Chromosome Location	chr2:35641532-35973963
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	chr2:35656668-35656761	HepG2	liver:	n/a	n/a
2	CEBPB	chr2:35884866-35884899	HepG2	liver:	n/a	n/a
3	CEBPB	chr2:35939874-35940327	HepG2	liver:	n/a	n/a
4	CEBPB	chr2:35721097-35721423	HepG2	liver:	n/a	chr2:35721266-35721283
5	CEBPB	chr2:35966704-35966918	A549	lung:	n/a	n/a
6	CEBPB	chr2:35669926-35670239	HepG2	liver:	n/a	chr2:35670080-35670091
7	CEBPB	chr2:35858453-35858678	HepG2	liver:	n/a	chr2:35858500-35858513 chr2:35858550-35858561 chr2:35858501-35858512
8	CEBPB	chr2:35721104-35721408	A549	lung:	n/a	chr2:35721266-35721283
9	CEBPB	chr2:35734480-35734730	A549	lung:	n/a	chr2:35734589-35734600
10	CEBPB	chr2:35725780-35725965	HepG2	liver:	n/a	chr2:35725883-35725894
11	CEBPB	chr2:35763050-35763245	A549	lung:	n/a	n/a
12	CEBPB	chr2:35939861-35940404	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr2:35933609-35933948	IMR90	lung:	n/a	chr2:35933776-35933785 chr2:35933774-35933785 chr2:35933776-35933787
14	CEBPB	chr2:35913520-35913719	A549	lung:	n/a	n/a
15	CEBPB	chr2:35686874-35687275	MCF-7	breast:	n/a	n/a
16	CEBPB	chr2:35735382-35735623	HepG2	liver:	n/a	n/a
17	CEBPB	chr2:35933650-35933879	MCF-7	breast:	n/a	chr2:35933776-35933785 chr2:35933774-35933785 chr2:35933776-35933787
18	CEBPB	chr2:35719522-35719843	Hela-S3	cervix:	n/a	chr2:35719704-35719715 chr2:35719702-35719715 chr2:35719702-35719715
19	CEBPB	chr2:35748851-35749208	A549	lung:	n/a	chr2:35749027-35749038
20	CEBPB	chr2:35646485-35646781	HepG2	liver:	n/a	chr2:35646627-35646638
21	CEBPB	chr2:35646519-35646680	A549	lung:	n/a	chr2:35646627-35646638
22	CEBPB	chr2:35849689-35849697	H1-hESC	embryonic stem cell:	n/a	n/a
23	CEBPB	chr2:35939980-35940327	K562	blood:	n/a	n/a
24	CEBPB	chr2:35721176-35721315	H1-hESC	embryonic stem cell:	n/a	chr2:35721266-35721283
25	CEBPB	chr2:35674694-35675078	MCF-7	breast:	n/a	n/a
26	CEBPB	chr2:35844691-35844762	HepG2	liver:	n/a	chr2:35844710-35844721
27	CEBPB	chr2:35748868-35749205	IMR90	lung:	n/a	chr2:35749027-35749038
28	CEBPB	chr2:35966616-35966957	Hela-S3	cervix:	n/a	n/a
29	CEBPB	chr2:35939909-35940320	IMR90	lung:	n/a	n/a
30	CEBPB	chr2:35923382-35923646	HepG2	liver:	n/a	chr2:35923513-35923522 chr2:35923513-35923524 chr2:35923491-35923502 chr2:35923511-35923522 chr2:35923511-35923524
31	CEBPB	chr2:35858519-35858578	K562	blood:	n/a	chr2:35858550-35858561
32	CEBPB	chr2:35748966-35749172	K562	blood:	n/a	chr2:35749027-35749038
33	CEBPB	chr2:35933607-35933953	A549	lung:	n/a	chr2:35933776-35933785 chr2:35933774-35933785 chr2:35933776-35933787
34	CEBPB	chr2:35939944-35940305	H1-hESC	embryonic stem cell:	n/a	n/a
35	CEBPB	chr2:35728862-35729460	MCF-7	breast:	n/a	chr2:35729241-35729252 chr2:35729241-35729254
36	CEBPB	chr2:35721143-35721441	Hela-S3	cervix:	n/a	chr2:35721266-35721283
37	CEBPB	chr2:35939938-35940319	A549	lung:	n/a	n/a
38	CEBPB	chr2:35870903-35871116	HepG2	liver:	n/a	chr2:35870981-35870992
39	CEBPB	chr2:35728741-35729438	Hela-S3	cervix:	n/a	chr2:35729241-35729252 chr2:35729241-35729254
40	CEBPB	chr2:35933608-35933969	HepG2	liver:	n/a	chr2:35933776-35933785 chr2:35933774-35933785 chr2:35933776-35933787
41	CEBPB	chr2:35695683-35695686	HepG2	liver:	n/a	n/a
42	CEBPB	chr2:35772172-35772385	HepG2	liver:	n/a	n/a
43	CEBPB	chr2:35748850-35749215	HepG2	liver:	n/a	chr2:35749027-35749038
44	CEBPB	chr2:35931181-35931345	H1-hESC	embryonic stem cell:	n/a	chr2:35931306-35931319 chr2:35931306-35931317
45	CEBPB	chr2:35773086-35773741	Hela-S3	cervix:	n/a	chr2:35773320-35773328
46	CEBPB	chr2:35931148-35931461	HepG2	liver:	n/a	chr2:35931306-35931319 chr2:35931306-35931317
47	CEBPB	chr2:35939882-35940380	A549	lung:	n/a	n/a
48	CEBPB	chr2:35933490-35933969	Hela-S3	cervix:	n/a	chr2:35933776-35933785 chr2:35933774-35933785 chr2:35933776-35933787
49	CEBPB	chr2:35734448-35734766	HepG2	liver:	n/a	chr2:35734589-35734600
50	CEBPB	chr2:35725799-35725908	H1-hESC	embryonic stem cell:	n/a	chr2:35725883-35725894

No.	Distal block	Cell Line	Cell type
1	chr2:35887668..35890004-chr2:35892119..35894663,2	K562	blood:
2	chr2:35877173..35880679-chr2:35885712..35889508,3	MCF-7	breast:
3	chr14:33621149..33624012-chr2:35726795..35729641,2	MCF-7	breast:
4	chr2:35636612..35639504-chr2:35640533..35642866,2	MCF-7	breast:
5	chr2:35878984..35880554-chr2:35880811..35883619,2	K562	blood:
6	chr2:35863760..35866047-chr2:35869717..35871925,2	MCF-7	breast:
7	chr2:35641385..35643000-chr2:35645114..35647584,2	K562	blood:
8	chr2:35863760..35866047-chr2:35869717..35871925,2	MCF-7	breast:
9	chr2:35393272..35393934-chr2:35653413..35654042,2	MCF-7	breast:
10	chr2:35721064..35722615-chr2:35725696..35727810,2	MCF-7	breast:
11	chr2:35847208..35849274-chr2:35852737..35854636,2	K562	blood:
12	chr2:35659227..35661410-chr2:35667763..35669756,2	MCF-7	breast:
13	chr2:35685603..35687345-chr2:35690892..35693607,2	K562	blood:
14	chr2:35887668..35890004-chr2:35892119..35894663,2	K562	blood:
15	chr2:35949877..35953265-chr2:35954228..35956588,3	MCF-7	breast:
16	chr2:35641385..35643000-chr2:35645114..35647584,2	K562	blood:
17	chr2:35694136..35697118-chr2:35710618..35713142,3	MCF-7	breast:
18	chr2:35721064..35722615-chr2:35725696..35727810,2	MCF-7	breast:
19	chr2:35659227..35661410-chr2:35667763..35669756,2	MCF-7	breast:
20	chr2:35878984..35880554-chr2:35880811..35883619,2	K562	blood:
21	chr2:35877173..35880679-chr2:35885712..35889508,3	MCF-7	breast:
22	chr2:35847208..35849274-chr2:35852737..35854636,2	K562	blood:
23	chr2:35696604..35698364-chr2:35701530..35703785,2	MCF-7	breast:
24	chr2:35685603..35687345-chr2:35690892..35693607,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC007401.2.1-6	chr2:35949825-35950208	NONHSAT070075
2	lnc-CRIM1-3	chr2:35666923-35667068	NONHSAT070071
3	lnc-CRIM1-3	chr2:35650255-35650330	NONHSAT070071

miRNA name	Chromosome Location	mirBase accession
hsa-miR-548ad	chr2:35696519-35696540	MIMAT0018946

Variant related genes	Relation type
MIR548AD	TF binding region
ENSG00000229013	TF binding region
MRPL50P1	TF binding region
RNU6-1117P	TF binding region
ENSG00000207255	chromatin interactions
ENSG00000265301	chromatin interactions
ENSG00000234587	chromatin interactions
ENSG00000229013	chromatin interactions

Extended variants
information (count: 9102 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:9102 , 50 per page) page: 1 2 3 4 5 6 7 ... 183

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13429480	chr2:35641532-35641533	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs566789203	chr2:35641591-35641592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535719194	chr2:35641602-35641603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs182862697	chr2:35641603-35641604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs142631498	chr2:35641605-35641606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537982172	chr2:35641623-35641624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs188416528	chr2:35641628-35641629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs193195258	chr2:35641642-35641643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539834256	chr2:35641653-35641654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs527560983	chr2:35641664-35641665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs560063464	chr2:35641699-35641700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs9653513	chr2:35641709-35641710	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs139648387	chr2:35641716-35641717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs73922148	chr2:35641770-35641771	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs531004627	chr2:35641799-35641800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs551081248	chr2:35641807-35641808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs372962227	chr2:35641811-35641812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs564407332	chr2:35641830-35641831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs184754351	chr2:35641883-35641884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs376231927	chr2:35641884-35641885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs189961289	chr2:35641901-35641902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs191228939	chr2:35641917-35641918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs183675143	chr2:35641918-35641919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs200525657	chr2:35641967-35641968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs549291121	chr2:35642026-35642027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs569122959	chr2:35642074-35642075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs573935536	chr2:35642109-35642110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs62141968	chr2:35642120-35642121	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs557872272	chr2:35642175-35642176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs571273902	chr2:35642204-35642205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs537810991	chr2:35642207-35642208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs535386365	chr2:35642219-35642220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs553358499	chr2:35642241-35642242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs189228290	chr2:35642292-35642293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs542161449	chr2:35642308-35642309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs201744096	chr2:35642316-35642317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs555617071	chr2:35642318-35642319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs199861777	chr2:35642319-35642320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs544494500	chr2:35642336-35642337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs58275055	chr2:35642369-35642370	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs533269945	chr2:35642396-35642397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs3924559	chr2:35642468-35642469	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs114496115	chr2:35642511-35642512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs57759601	chr2:35642520-35642521	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs549328119	chr2:35642570-35642571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs112735752	chr2:35650259-35650260	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs530223569	chr2:35650266-35650267	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs13391685	chr2:35650298-35650299	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs544103554	chr2:35659817-35659818	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs4513272	chr2:35659858-35659859	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
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
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
Autism	22495309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD

Chromatin state (count:237 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:35640800-35641600	Enhancers	Brain Substantia Nigra	brain
2	chr2:35641000-35642600	Enhancers	Fetal Stomach	stomach
3	chr2:35641400-35642000	Weak transcription	Fetal Lung	lung
4	chr2:35642000-35642600	Enhancers	Fetal Lung	lung
5	chr2:35659800-35660400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
6	chr2:35660000-35660600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
7	chr2:35660000-35660600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:35660400-35661200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr2:35660600-35665400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:35660600-35666200	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr2:35660800-35661400	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr2:35660800-35661600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:35660800-35661800	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr2:35661000-35661400	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr2:35661000-35661800	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr2:35661200-35661800	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr2:35661200-35662000	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr2:35661400-35662000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr2:35661400-35662800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr2:35661600-35661800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:35661800-35662600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:35661800-35666200	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr2:35661800-35668400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr2:35662000-35662600	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr2:35662000-35666200	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr2:35662200-35664000	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr2:35662600-35667600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:35662600-35668000	Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr2:35662800-35663200	Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr2:35663200-35663800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr2:35663800-35664000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
32	chr2:35664000-35664200	Transcr. at gene 5' and 3'	ES-I3 Cell Line	embryonic stem cell
33	chr2:35664000-35667400	Active TSS	H9 Cell Line	embryonic stem cell
34	chr2:35664200-35668200	Active TSS	ES-I3 Cell Line	embryonic stem cell
35	chr2:35665400-35665600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr2:35666200-35667400	Active TSS	H1 Cell Line	embryonic stem cell
37	chr2:35666200-35667400	Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr2:35666200-35667600	Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr2:35666400-35667000	Active TSS	iPS-18 Cell Line	embryonic stem cell
40	chr2:35667600-35667800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr2:35667600-35668600	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr2:35667800-35668000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr2:35668000-35668800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr2:35668000-35669400	Enhancers	Dnd41	blood
45	chr2:35668000-35669600	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr2:35668200-35668600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
47	chr2:35668600-35668800	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr2:35668600-35668800	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr2:35668600-35680200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr2:35668800-35670400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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