Variant report

Variant	nsv873862
Chromosome Location	chr2:35909000-35955286
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	chr2:35933490-35933969	Hela-S3	cervix:	n/a	chr2:35933776-35933785 chr2:35933774-35933785 chr2:35933776-35933787
2	CEBPB	chr2:35939882-35940380	A549	lung:	n/a	n/a
3	CEBPB	chr2:35939944-35940305	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr2:35931181-35931345	H1-hESC	embryonic stem cell:	n/a	chr2:35931306-35931319 chr2:35931306-35931317
5	CEBPB	chr2:35939980-35940327	K562	blood:	n/a	n/a
6	CEBPB	chr2:35939938-35940319	A549	lung:	n/a	n/a
7	CEBPB	chr2:35939874-35940327	HepG2	liver:	n/a	n/a
8	CEBPB	chr2:35933609-35933948	IMR90	lung:	n/a	chr2:35933776-35933785 chr2:35933774-35933785 chr2:35933776-35933787
9	CEBPB	chr2:35923382-35923646	HepG2	liver:	n/a	chr2:35923513-35923522 chr2:35923513-35923524 chr2:35923491-35923502 chr2:35923511-35923522 chr2:35923511-35923524
10	CEBPB	chr2:35933650-35933879	MCF-7	breast:	n/a	chr2:35933776-35933785 chr2:35933774-35933785 chr2:35933776-35933787
11	CEBPB	chr2:35939909-35940320	IMR90	lung:	n/a	n/a
12	CEBPB	chr2:35913520-35913719	A549	lung:	n/a	n/a
13	CEBPB	chr2:35939861-35940404	Hela-S3	cervix:	n/a	n/a
14	CEBPB	chr2:35931148-35931461	HepG2	liver:	n/a	chr2:35931306-35931319 chr2:35931306-35931317
15	CEBPB	chr2:35933609-35933943	H1-hESC	embryonic stem cell:	n/a	chr2:35933776-35933785 chr2:35933774-35933785 chr2:35933776-35933787
16	CEBPB	chr2:35933607-35933953	A549	lung:	n/a	chr2:35933776-35933785 chr2:35933774-35933785 chr2:35933776-35933787
17	CEBPB	chr2:35933608-35933969	HepG2	liver:	n/a	chr2:35933776-35933785 chr2:35933774-35933785 chr2:35933776-35933787
18	CTCF	chr2:35933480-35933630	HAc	cerebellar:	n/a	n/a
19	CTCF	chr2:35951400-35951550	AG10803	skin:	n/a	n/a
20	CTCF	chr2:35930220-35930370	HPF	lung:	n/a	n/a
21	E2F4	chr2:35939895-35940138	MCF10A-Er-Src	breast:	n/a	n/a
22	E2F4	chr2:35949019-35949512	MCF10A-Er-Src	breast:	n/a	n/a
23	ELK1	chr2:35916630-35916756	K562	blood:	n/a	n/a
24	EP300	chr2:35939935-35940459	Hela-S3	cervix:	n/a	chr2:35940291-35940299
25	EP300	chr2:35933646-35933927	Hela-S3	cervix:	n/a	n/a
26	FAM48A	chr2:35912177-35912270	GM12878	blood:	n/a	n/a
27	FOS	chr2:35940097-35940339	MCF10A-Er-Src	breast:	n/a	n/a
28	FOS	chr2:35940023-35940340	MCF10A-Er-Src	breast:	n/a	n/a
29	FOXA1	chr2:35918471-35918709	T-47D	breast:	n/a	chr2:35918562-35918577
30	FOXA1	chr2:35918394-35918703	T-47D	breast:	n/a	chr2:35918562-35918577
31	GATA2	chr2:35934843-35935183	SH-SY5Y	brain:	n/a	n/a
32	GATA2	chr2:35949844-35950266	SH-SY5Y	brain:	n/a	n/a
33	GATA3	chr2:35918414-35918771	T-47D	breast:	n/a	n/a
34	GATA3	chr2:35908816-35909069	T-47D	breast:	n/a	chr2:35908951-35908968 chr2:35908994-35909001 chr2:35908950-35908959 chr2:35908992-35909002 chr2:35908950-35908959
35	GATA3	chr2:35949878-35950232	T-47D	breast:	n/a	n/a
36	GATA3	chr2:35918347-35918712	T-47D	breast:	n/a	n/a
37	GATA3	chr2:35949773-35950057	SH-SY5Y	brain:	n/a	n/a
38	GATA3	chr2:35949852-35950294	MCF-7	breast:	n/a	n/a
39	IRF3	chr2:35950938-35951042	HepG2	liver:	n/a	n/a
40	JUND	chr2:35919452-35919763	HepG2	liver:	n/a	n/a
41	MAFF	chr2:35933519-35933552	HepG2	liver:	n/a	n/a
42	MAFK	chr2:35936251-35936324	H1-hESC	embryonic stem cell:	n/a	n/a
43	MAFK	chr2:35940015-35940349	Hela-S3	cervix:	n/a	n/a
44	MAFK	chr2:35919337-35919522	HepG2	liver:	n/a	n/a
45	MAFK	chr2:35916457-35916553	HepG2	liver:	n/a	n/a
46	MAX	chr2:35913465-35913665	NB4	blood:	n/a	chr2:35913561-35913571
47	MAZ	chr2:35930856-35930906	HepG2	liver:	n/a	n/a
48	POLR2A	chr2:35954689-35954883	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr2:35927644-35927655	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr2:35921640-35921763	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:35949877..35953265-chr2:35954228..35956588,3	MCF-7	breast:

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: 955 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:955 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs925910	chr2:35909000-35909001	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs182885185	chr2:35909012-35909013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs534400882	chr2:35909054-35909055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs559247604	chr2:35909081-35909082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs80002082	chr2:35909101-35909102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs538245554	chr2:35909153-35909154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187399220	chr2:35909168-35909169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs575154557	chr2:35909207-35909208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575050315	chr2:35909240-35909241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191482776	chr2:35909242-35909243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572656851	chr2:35909274-35909275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113153162	chr2:35909281-35909282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs114312250	chr2:35909285-35909286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548186775	chr2:35909296-35909297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs925911	chr2:35909305-35909306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs367641554	chr2:35909328-35909329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184062936	chr2:35909329-35909330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs76922456	chr2:35909330-35909331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530053561	chr2:35909386-35909387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138025873	chr2:35909387-35909388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs59151177	chr2:35909409-35909410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs13031628	chr2:35909410-35909411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs62145420	chr2:35909414-35909415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs62145421	chr2:35909420-35909421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs138525303	chr2:35909421-35909422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs62145422	chr2:35909424-35909425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs386644802	chr2:35909452-35909453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs116420643	chr2:35909453-35909454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564691718	chr2:35909460-35909461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs79966112	chr2:35909476-35909477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370065766	chr2:35909478-35909479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192663485	chr2:35909497-35909498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373713885	chr2:35909523-35909524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs13031674	chr2:35909530-35909531	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs150376242	chr2:35909561-35909562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs13032391	chr2:35909573-35909574	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs568795648	chr2:35909576-35909577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184461833	chr2:35909621-35909622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190624539	chr2:35909630-35909631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538756512	chr2:35909638-35909639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs138109196	chr2:35909682-35909683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs13008963	chr2:35909684-35909685	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs36113363	chr2:35909725-35909726	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs576983968	chr2:35909742-35909743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs142544168	chr2:35909791-35909792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562646446	chr2:35909879-35909880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs76691450	chr2:35909880-35909881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542289245	chr2:35909885-35909886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371429229	chr2:35909905-35909906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs13032733	chr2:35909924-35909925	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:67)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:35902000-35909000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:35908400-35909200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:35908400-35909200	Enhancers	Fetal Intestine Large	intestine
4	chr2:35909000-35909200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:35909200-35910800	Weak transcription	Fetal Intestine Large	intestine
6	chr2:35910000-35910200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:35910800-35911000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:35910800-35911000	Enhancers	Fetal Intestine Large	intestine
9	chr2:35917800-35918400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:35922800-35923600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:35937200-35955200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:35943200-35943400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:35947200-35947600	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr2:35955000-35955800	Enhancers	H1 Cell Line	embryonic stem cell
15	chr2:35955000-35955800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr2:35955200-35955400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:35955200-35955800	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr2:35955200-35955800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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