Variant report

Variant	nsv873854
Chromosome Location	chr2:35829882-35985118
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	chr2:35939909-35940320	IMR90	lung:	n/a	n/a
2	CEBPB	chr2:35923382-35923646	HepG2	liver:	n/a	chr2:35923513-35923522 chr2:35923513-35923524 chr2:35923491-35923502 chr2:35923511-35923522 chr2:35923511-35923524
3	CEBPB	chr2:35966667-35966899	IMR90	lung:	n/a	n/a
4	CEBPB	chr2:35858453-35858678	HepG2	liver:	n/a	chr2:35858500-35858513 chr2:35858550-35858561 chr2:35858501-35858512
5	CEBPB	chr2:35931148-35931461	HepG2	liver:	n/a	chr2:35931306-35931319 chr2:35931306-35931317
6	CEBPB	chr2:35848050-35848250	HepG2	liver:	n/a	chr2:35848175-35848184 chr2:35848174-35848185 chr2:35848173-35848184
7	CEBPB	chr2:35933607-35933953	A549	lung:	n/a	chr2:35933776-35933785 chr2:35933774-35933785 chr2:35933776-35933787
8	CEBPB	chr2:35939861-35940404	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr2:35939980-35940327	K562	blood:	n/a	n/a
10	CEBPB	chr2:35849689-35849697	H1-hESC	embryonic stem cell:	n/a	n/a
11	CEBPB	chr2:35933609-35933948	IMR90	lung:	n/a	chr2:35933776-35933785 chr2:35933774-35933785 chr2:35933776-35933787
12	CEBPB	chr2:35939874-35940327	HepG2	liver:	n/a	n/a
13	CEBPB	chr2:35966704-35966918	A549	lung:	n/a	n/a
14	CEBPB	chr2:35939938-35940319	A549	lung:	n/a	n/a
15	CEBPB	chr2:35933490-35933969	Hela-S3	cervix:	n/a	chr2:35933776-35933785 chr2:35933774-35933785 chr2:35933776-35933787
16	CEBPB	chr2:35858519-35858578	K562	blood:	n/a	chr2:35858550-35858561
17	CEBPB	chr2:35933650-35933879	MCF-7	breast:	n/a	chr2:35933776-35933785 chr2:35933774-35933785 chr2:35933776-35933787
18	CEBPB	chr2:35933608-35933969	HepG2	liver:	n/a	chr2:35933776-35933785 chr2:35933774-35933785 chr2:35933776-35933787
19	CEBPB	chr2:35939944-35940305	H1-hESC	embryonic stem cell:	n/a	n/a
20	CEBPB	chr2:35939882-35940380	A549	lung:	n/a	n/a
21	CEBPB	chr2:35913520-35913719	A549	lung:	n/a	n/a
22	CEBPB	chr2:35931181-35931345	H1-hESC	embryonic stem cell:	n/a	chr2:35931306-35931319 chr2:35931306-35931317
23	CEBPB	chr2:35933609-35933943	H1-hESC	embryonic stem cell:	n/a	chr2:35933776-35933785 chr2:35933774-35933785 chr2:35933776-35933787
24	CEBPB	chr2:35870903-35871116	HepG2	liver:	n/a	chr2:35870981-35870992
25	CEBPB	chr2:35844691-35844762	HepG2	liver:	n/a	chr2:35844710-35844721
26	CEBPB	chr2:35884866-35884899	HepG2	liver:	n/a	n/a
27	CEBPB	chr2:35966616-35966957	Hela-S3	cervix:	n/a	n/a
28	CTCF	chr2:35895380-35895393	GM13976	blood:	n/a	n/a
29	CTCF	chr2:35902100-35902250	WERI-Rb-1	eye:	n/a	n/a
30	CTCF	chr2:35964402-35964423	GM20000	blood:	n/a	n/a
31	CTCF	chr2:35930220-35930370	HPF	lung:	n/a	n/a
32	CTCF	chr2:35956707-35956709	IMR90	lung:	n/a	n/a
33	CTCF	chr2:35933480-35933630	HAc	cerebellar:	n/a	n/a
34	CTCF	chr2:35900066-35900109	GM10248	blood:	n/a	n/a
35	CTCF	chr2:35876549-35876593	GM20000	blood:	n/a	n/a
36	CTCF	chr2:35902040-35902190	HEK293	kidney:	n/a	n/a
37	CTCF	chr2:35846220-35846370	GM12873	blood:	n/a	n/a
38	CTCF	chr2:35951400-35951550	AG10803	skin:	n/a	n/a
39	E2F4	chr2:35949019-35949512	MCF10A-Er-Src	breast:	n/a	n/a
40	E2F4	chr2:35902982-35903126	MCF10A-Er-Src	breast:	n/a	n/a
41	E2F4	chr2:35842594-35842896	MCF10A-Er-Src	breast:	n/a	n/a
42	E2F4	chr2:35966663-35966912	MCF10A-Er-Src	breast:	n/a	n/a
43	E2F4	chr2:35939895-35940138	MCF10A-Er-Src	breast:	n/a	n/a
44	ELK1	chr2:35916630-35916756	K562	blood:	n/a	n/a
45	EP300	chr2:35939935-35940459	Hela-S3	cervix:	n/a	chr2:35940291-35940299
46	EP300	chr2:35933646-35933927	Hela-S3	cervix:	n/a	n/a
47	ESR1	chr2:35833178-35833449	T-47D	breast:	n/a	n/a
48	ESR1	chr2:35833182-35833448	T-47D	breast:	n/a	n/a
49	FAM48A	chr2:35880726-35880816	GM12878	blood:	n/a	n/a
50	FAM48A	chr2:35872500-35872613	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:35863760..35866047-chr2:35869717..35871925,2	MCF-7	breast:
2	chr2:35887668..35890004-chr2:35892119..35894663,2	K562	blood:
3	chr2:35878984..35880554-chr2:35880811..35883619,2	K562	blood:
4	chr2:35847208..35849274-chr2:35852737..35854636,2	K562	blood:
5	chr2:35949877..35953265-chr2:35954228..35956588,3	MCF-7	breast:
6	chr2:35878984..35880554-chr2:35880811..35883619,2	K562	blood:
7	chr2:35887668..35890004-chr2:35892119..35894663,2	K562	blood:
8	chr2:35877173..35880679-chr2:35885712..35889508,3	MCF-7	breast:
9	chr2:35877173..35880679-chr2:35885712..35889508,3	MCF-7	breast:
10	chr2:35863760..35866047-chr2:35869717..35871925,2	MCF-7	breast:
11	chr2:35847208..35849274-chr2:35852737..35854636,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC007401.2.1-6	chr2:35949825-35950208	NONHSAT070075

Variant related genes	Relation type
MRPL50P1	TF binding region
ENSG00000234587	chromatin interactions

Extended variants
information (count: 4514 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:4514 , 50 per page) page: 1 2 3 4 5 6 7 ... 91

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1371417	chr2:35829882-35829883	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs138015065	chr2:35829887-35829888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186456322	chr2:35829915-35829916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190892256	chr2:35829937-35829938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182148930	chr2:35829939-35829940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs369700493	chr2:35829965-35829966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539012011	chr2:35829995-35829996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs140702498	chr2:35830013-35830014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569284335	chr2:35830047-35830048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559169118	chr2:35830051-35830052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs185181664	chr2:35830064-35830065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs190869896	chr2:35830077-35830078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573462444	chr2:35830082-35830083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534425156	chr2:35830083-35830084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529840639	chr2:35830126-35830127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs74552996	chr2:35830143-35830144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544948980	chr2:35830148-35830149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563141249	chr2:35830152-35830153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs574959011	chr2:35830175-35830176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs79102293	chr2:35830193-35830194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560677292	chr2:35830211-35830212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576309928	chr2:35830212-35830213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183416686	chr2:35830259-35830260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546428942	chr2:35830291-35830292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs150097028	chr2:35830296-35830297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188493294	chr2:35830301-35830302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs1371418	chr2:35830334-35830335	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs377358212	chr2:35830345-35830346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550921648	chr2:35830358-35830359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569177139	chr2:35830435-35830436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191584146	chr2:35830447-35830448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs138632921	chr2:35830488-35830489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370375270	chr2:35830497-35830498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567019699	chr2:35830515-35830516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534384314	chr2:35830526-35830527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs62145382	chr2:35830557-35830558	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs570723767	chr2:35830561-35830562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538178910	chr2:35830575-35830576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530801839	chr2:35830576-35830577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556850446	chr2:35830587-35830588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs114873875	chr2:35830626-35830627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542260986	chr2:35830633-35830634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs149316790	chr2:35830636-35830637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572611762	chr2:35830743-35830744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540375053	chr2:35830746-35830747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564951946	chr2:35830750-35830751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532398304	chr2:35830777-35830778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541153037	chr2:35830780-35830781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs183168168	chr2:35830791-35830792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544165579	chr2:35830860-35830861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:35827800-35833400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:35833400-35834200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:35834200-35851800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:35846200-35846400	Enhancers	Lung	lung
5	chr2:35846400-35846600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:35849200-35849600	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr2:35849200-35849800	Enhancers	H9 Cell Line	embryonic stem cell
8	chr2:35849200-35849800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr2:35849200-35849800	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr2:35860000-35891000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:35876000-35876800	Enhancers	Rectal Mucosa Donor 29	rectum
12	chr2:35876200-35878600	Enhancers	Fetal Intestine Large	intestine
13	chr2:35876600-35877200	Enhancers	Fetal Intestine Small	intestine
14	chr2:35876800-35877200	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr2:35876800-35877200	Enhancers	Small Intestine	intestine
16	chr2:35877000-35877600	Enhancers	Liver	Liver
17	chr2:35891000-35892000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:35901800-35902000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr2:35902000-35902200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr2:35902000-35909000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr2:35902600-35903200	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr2:35902800-35903600	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr2:35907400-35907600	Enhancers	Pancreas	Pancrea
24	chr2:35908400-35909200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:35908400-35909200	Enhancers	Fetal Intestine Large	intestine
26	chr2:35909000-35909200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr2:35909200-35910800	Weak transcription	Fetal Intestine Large	intestine
28	chr2:35910000-35910200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:35910800-35911000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr2:35910800-35911000	Enhancers	Fetal Intestine Large	intestine
31	chr2:35917800-35918400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr2:35922800-35923600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr2:35937200-35955200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:35943200-35943400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr2:35947200-35947600	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr2:35955000-35955800	Enhancers	H1 Cell Line	embryonic stem cell
37	chr2:35955000-35955800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr2:35955200-35955400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr2:35955200-35955800	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr2:35955200-35955800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr2:35955400-35955800	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr2:35955600-35956000	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr2:35959400-35960000	Enhancers	Fetal Muscle Trunk	muscle
44	chr2:35962600-35963800	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr2:35963600-35963800	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr2:35963800-35971600	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr2:35963800-35972000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr2:35971600-35972000	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr2:35972000-35972200	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr2:35977000-35977200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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