Variant report

Variant	nsv1012217
Chromosome Location	chr3:21976969-22000946
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	chr3:21996134-21996664	IMR90	lung:	n/a	n/a
2	CEBPB	chr3:21996174-21996533	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr3:21983754-21984218	IMR90	lung:	n/a	chr3:21984197-21984210
4	CTCF	chr3:21980128-21980180	MCF-7	breast:	n/a	n/a
5	CTCF	chr3:21988251-21988325	LNCaP	prostate:	n/a	n/a
6	CTCF	chr3:21996780-21996930	GM06990	blood:	n/a	n/a
7	CTCF	chr3:21998853-21998886	GM13976	blood:	n/a	n/a
8	CTCF	chr3:22000640-22000790	HFF	foreskin:	n/a	n/a
9	E2F4	chr3:21983881-21984127	MCF10A-Er-Src	breast:	n/a	n/a
10	E2F4	chr3:21995949-21996485	MCF10A-Er-Src	breast:	n/a	n/a
11	EBF1	chr3:21985565-21986097	GM12878	blood:	n/a	n/a
12	EP300	chr3:21983617-21984398	SK-N-SH	brain:	n/a	chr3:21983882-21983889 chr3:21983861-21983870
13	EP300	chr3:21983614-21984173	SK-N-SH	brain:	n/a	chr3:21983882-21983889 chr3:21983861-21983870
14	EP300	chr3:21996206-21996540	Hela-S3	cervix:	n/a	n/a
15	EP300	chr3:21983838-21984230	SK-N-SH_RA	brain:	n/a	chr3:21983882-21983889 chr3:21983861-21983870
16	EP300	chr3:21983774-21984300	SK-N-SH_RA	brain:	n/a	chr3:21983882-21983889 chr3:21983861-21983870
17	ESR1	chr3:21978643-21978921	ECC-1	luminal epithelium:	n/a	n/a
18	ESR1	chr3:21979690-21979940	ECC-1	luminal epithelium:	n/a	chr3:21979806-21979823
19	FOS	chr3:21983686-21984346	MCF10A-Er-Src	breast:	n/a	chr3:21983861-21983871 chr3:21983860-21983872 chr3:21983861-21983870 chr3:21983862-21983871 chr3:21983861-21983871 chr3:21983863-21983870
20	FOS	chr3:21996203-21996529	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr3:21983679-21984147	MCF10A-Er-Src	breast:	n/a	chr3:21983861-21983871 chr3:21983860-21983872 chr3:21983861-21983870 chr3:21983862-21983871 chr3:21983861-21983871 chr3:21983863-21983870
22	FOS	chr3:21996984-21997174	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr3:21983687-21984101	MCF10A-Er-Src	breast:	n/a	chr3:21983861-21983871 chr3:21983860-21983872 chr3:21983861-21983870 chr3:21983862-21983871 chr3:21983861-21983871 chr3:21983863-21983870
24	FOS	chr3:21995955-21996602	MCF10A-Er-Src	breast:	n/a	n/a
25	FOS	chr3:21996970-21997170	MCF10A-Er-Src	breast:	n/a	n/a
26	FOS	chr3:21996160-21996599	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr3:21996172-21996566	MCF10A-Er-Src	breast:	n/a	n/a
28	FOS	chr3:21983706-21984092	MCF10A-Er-Src	breast:	n/a	chr3:21983861-21983871 chr3:21983860-21983872 chr3:21983861-21983870 chr3:21983862-21983871 chr3:21983861-21983871 chr3:21983863-21983870
29	FOSL2	chr3:21983666-21984256	SK-N-SH	brain:	n/a	chr3:21983861-21983871 chr3:21983860-21983872 chr3:21983861-21983870 chr3:21983862-21983871 chr3:21983861-21983871 chr3:21983863-21983870
30	GATA3	chr3:22000365-22000565	SH-SY5Y	brain:	n/a	n/a
31	GATA3	chr3:21983576-21984442	SK-N-SH	brain:	n/a	n/a
32	GATA3	chr3:21983637-21984346	SK-N-SH	brain:	n/a	n/a
33	JUN	chr3:21977486-21977516	H1-hESC	embryonic stem cell:	n/a	n/a
34	JUND	chr3:21983737-21984331	SK-N-SH	brain:	n/a	chr3:21983861-21983871 chr3:21983860-21983872 chr3:21983861-21983870 chr3:21983862-21983871 chr3:21983861-21983871 chr3:21983860-21983871 chr3:21983863-21983870
35	JUND	chr3:21983745-21984022	HepG2	liver:	n/a	chr3:21983861-21983871 chr3:21983860-21983872 chr3:21983861-21983870 chr3:21983862-21983871 chr3:21983861-21983871 chr3:21983860-21983871 chr3:21983863-21983870
36	JUND	chr3:21983716-21984263	SK-N-SH	brain:	n/a	chr3:21983861-21983871 chr3:21983860-21983872 chr3:21983861-21983870 chr3:21983862-21983871 chr3:21983861-21983871 chr3:21983860-21983871 chr3:21983863-21983870
37	JUND	chr3:21983694-21984337	SK-N-SH	brain:	n/a	chr3:21983861-21983871 chr3:21983860-21983872 chr3:21983861-21983870 chr3:21983862-21983871 chr3:21983861-21983871 chr3:21983860-21983871 chr3:21983863-21983870
38	MAFF	chr3:21977735-21978044	HepG2	liver:	n/a	chr3:21977897-21977915
39	MAFK	chr3:21977733-21978031	HepG2	liver:	n/a	chr3:21977901-21977915 chr3:21977898-21977913 chr3:21977894-21977911 chr3:21977898-21977914
40	MAFK	chr3:21977729-21978067	HepG2	liver:	n/a	chr3:21977901-21977915 chr3:21977898-21977913 chr3:21977894-21977911 chr3:21977898-21977914
41	MAFK	chr3:21977720-21978059	IMR90	lung:	n/a	chr3:21977901-21977915 chr3:21977898-21977913 chr3:21977894-21977911 chr3:21977898-21977914
42	MAFK	chr3:21978731-21978858	HepG2	liver:	n/a	n/a
43	MAFK	chr3:21977705-21977972	H1-hESC	embryonic stem cell:	n/a	chr3:21977901-21977915 chr3:21977898-21977913 chr3:21977894-21977911 chr3:21977898-21977914
44	MAFK	chr3:21978730-21978939	HepG2	liver:	n/a	n/a
45	MYC	chr3:21990003-21990164	MCF10A-Er-Src	breast:	n/a	n/a
46	MYC	chr3:21997082-21997236	MCF10A-Er-Src	breast:	n/a	n/a
47	MYC	chr3:21983527-21984403	MCF10A-Er-Src	breast:	n/a	chr3:21983960-21983970 chr3:21983960-21983969
48	MYC	chr3:21996171-21996576	MCF10A-Er-Src	breast:	n/a	n/a
49	MYC	chr3:21983781-21984466	MCF10A-Er-Src	breast:	n/a	chr3:21983960-21983970 chr3:21983960-21983969
50	MYC	chr3:21980156-21980179	H1-hESC	embryonic stem cell:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UBE2E2-2	chr3:21998628-21998684	ENSG00000223351
2	lnc-UBE2E2-2	chr3:21984058-21984156	ENSG00000223351
3	lnc-UBE2E2-2	chr3:22000324-22000415	ENSG00000223351
4	lnc-UBE2E2-2	chr3:21998631-21998684	ENSG00000223351
5	lnc-UBE2E2-2	chr3:22000324-22000415	ENSG00000223351
6	lnc-UBE2E2-7	chr3:21982020-21982219	l_2330_chr3:21975326-21982219_testes

Variant related genes	Relation type
ZNF385D-AS2	TF binding region

Extended variants
information (count: 1399 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:1399 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568636822	chr3:21976973-21976974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs574896118	chr3:21976994-21976995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs147229948	chr3:21977004-21977005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576880519	chr3:21977053-21977054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs140711166	chr3:21977058-21977059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs559347485	chr3:21977077-21977078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573351414	chr3:21977119-21977120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541391940	chr3:21977127-21977128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs75726447	chr3:21977130-21977131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531063987	chr3:21977198-21977199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10643046	chr3:21977239-21977240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs35324051	chr3:21977240-21977241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs397742135	chr3:21977243-21977244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs76698975	chr3:21977297-21977298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs7628630	chr3:21977337-21977338	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs528635361	chr3:21977340-21977341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs144646425	chr3:21977439-21977440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568479360	chr3:21977466-21977467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7651606	chr3:21977471-21977472	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs184139782	chr3:21977498-21977499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188397478	chr3:21977508-21977509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs79970686	chr3:21977556-21977557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551741266	chr3:21977583-21977584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558826546	chr3:21977590-21977591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181568271	chr3:21977613-21977614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541148040	chr3:21977631-21977632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552809092	chr3:21977661-21977662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs77460140	chr3:21977711-21977712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541429058	chr3:21977747-21977748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184230952	chr3:21977774-21977775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs115542231	chr3:21977798-21977799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs17010304	chr3:21977857-21977858	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs117603063	chr3:21977875-21977876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs55917153	chr3:21977884-21977885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562060140	chr3:21977887-21977888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs397805212	chr3:21977896-21977897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369773216	chr3:21977897-21977898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529356849	chr3:21977902-21977903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551001186	chr3:21977970-21977971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569264687	chr3:21977972-21977973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs534419888	chr3:21977994-21977995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552165298	chr3:21978013-21978014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs368359346	chr3:21978029-21978030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs151270149	chr3:21978036-21978037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs140479897	chr3:21978038-21978039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs150015126	chr3:21978046-21978047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs574459422	chr3:21978074-21978075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189376370	chr3:21978085-21978086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs145295197	chr3:21978086-21978087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs548308678	chr3:21978096-21978097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Melanoma	20688739	CNVD

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:21971800-21983800	Weak transcription	Fetal Heart	heart
2	chr3:21976400-21981800	Weak transcription	Fetal Lung	lung
3	chr3:21979800-21980200	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr3:21979800-21980200	Enhancers	HSMM	muscle
5	chr3:21980600-21982600	Enhancers	Fetal Stomach	stomach
6	chr3:21981800-21982000	Enhancers	Fetal Lung	lung
7	chr3:21982000-21987200	Weak transcription	Fetal Lung	lung
8	chr3:21982600-21983800	Weak transcription	Fetal Stomach	stomach
9	chr3:21983800-21984400	Enhancers	Fetal Stomach	stomach
10	chr3:21983800-21984600	Enhancers	Fetal Heart	heart
11	chr3:21983800-21984800	Enhancers	NHLF	lung
12	chr3:21984000-21984200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr3:21984000-21984200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr3:21984000-21984200	Enhancers	NH-A	brain
15	chr3:21984000-21984600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr3:21984000-21984600	Enhancers	Muscle Satellite Cultured Cells	--
17	chr3:21984000-21984600	Enhancers	NHDF-Ad	bronchial
18	chr3:21984200-21985200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr3:21984200-21985400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr3:21984400-21985200	Weak transcription	Fetal Stomach	stomach
21	chr3:21984600-21985600	Weak transcription	NHDF-Ad	bronchial
22	chr3:21984600-21985800	Weak transcription	Fetal Heart	heart
23	chr3:21984600-21985800	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr3:21984600-21986000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr3:21984600-21996000	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr3:21984800-21988400	Weak transcription	NHLF	lung
27	chr3:21985200-21986000	Active TSS	Fetal Stomach	stomach
28	chr3:21985200-21987400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr3:21985400-21985600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr3:21985400-21985800	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr3:21985400-21986200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr3:21985600-21985800	Enhancers	NHDF-Ad	bronchial
33	chr3:21985600-21986000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr3:21985600-21986000	Active TSS	Stomach Smooth Muscle	stomach
35	chr3:21985600-21986400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr3:21985800-21986200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
37	chr3:21985800-21986200	Enhancers	Fetal Heart	heart
38	chr3:21985800-21986200	Flanking Active TSS	NHDF-Ad	bronchial
39	chr3:21985800-21986400	Enhancers	Fetal Kidney	kidney
40	chr3:21985800-21986800	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr3:21986000-21986200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr3:21986000-21986200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr3:21986000-21986200	Enhancers	NH-A	brain
44	chr3:21986000-21986600	Weak transcription	Fetal Stomach	stomach
45	chr3:21986200-21987200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr3:21986200-21987200	Weak transcription	NHDF-Ad	bronchial
47	chr3:21986400-21986800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr3:21986400-21986800	Weak transcription	Fetal Kidney	kidney
49	chr3:21986800-21987200	Enhancers	Pancreatic Islets	Pancreatic Islet
50	chr3:21986800-21987600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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