Variant report

Variant	nsv999478
Chromosome Location	chr3:21971861-22012241
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	chr3:21983754-21984218	IMR90	lung:	n/a	chr3:21984197-21984210
3	CEBPB	chr3:21996174-21996533	Hela-S3	cervix:	n/a	n/a
4	CTCF	chr3:21998853-21998886	GM13976	blood:	n/a	n/a
5	CTCF	chr3:22000640-22000790	HFF	foreskin:	n/a	n/a
6	CTCF	chr3:21980128-21980180	MCF-7	breast:	n/a	n/a
7	CTCF	chr3:21988251-21988325	LNCaP	prostate:	n/a	n/a
8	CTCF	chr3:21996780-21996930	GM06990	blood:	n/a	n/a
9	E2F4	chr3:21995949-21996485	MCF10A-Er-Src	breast:	n/a	n/a
10	E2F4	chr3:21983881-21984127	MCF10A-Er-Src	breast:	n/a	n/a
11	EBF1	chr3:21985565-21986097	GM12878	blood:	n/a	n/a
12	EP300	chr3:21983774-21984300	SK-N-SH_RA	brain:	n/a	chr3:21983882-21983889 chr3:21983861-21983870
13	EP300	chr3:21983617-21984398	SK-N-SH	brain:	n/a	chr3:21983882-21983889 chr3:21983861-21983870
14	EP300	chr3:21983614-21984173	SK-N-SH	brain:	n/a	chr3:21983882-21983889 chr3:21983861-21983870
15	EP300	chr3:21996206-21996540	Hela-S3	cervix:	n/a	n/a
16	EP300	chr3:21983838-21984230	SK-N-SH_RA	brain:	n/a	chr3:21983882-21983889 chr3:21983861-21983870
17	ESR1	chr3:21979690-21979940	ECC-1	luminal epithelium:	n/a	chr3:21979806-21979823
18	ESR1	chr3:21978643-21978921	ECC-1	luminal epithelium:	n/a	n/a
19	FOS	chr3:22009928-22010025	MCF10A-Er-Src	breast:	n/a	n/a
20	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
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	chr3:22004212-22004269	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr3:21996160-21996599	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr3:21996984-21997174	MCF10A-Er-Src	breast:	n/a	n/a
25	FOS	chr3:21996172-21996566	MCF10A-Er-Src	breast:	n/a	n/a
26	FOS	chr3:22009885-22010052	MCF10A-Er-Src	breast:	n/a	n/a
27	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
28	FOS	chr3:21995955-21996602	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr3:21996970-21997170	MCF10A-Er-Src	breast:	n/a	n/a
30	FOS	chr3:22009897-22010001	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr3:21996203-21996529	MCF10A-Er-Src	breast:	n/a	n/a
32	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
33	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
34	GATA3	chr3:21983637-21984346	SK-N-SH	brain:	n/a	n/a
35	GATA3	chr3:21983576-21984442	SK-N-SH	brain:	n/a	n/a
36	GATA3	chr3:22000365-22000565	SH-SY5Y	brain:	n/a	n/a
37	JUN	chr3:22011822-22012021	K562	blood:	n/a	n/a
38	JUN	chr3:21977486-21977516	H1-hESC	embryonic stem cell:	n/a	n/a
39	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
40	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
41	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
42	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
43	MAFF	chr3:21977735-21978044	HepG2	liver:	n/a	chr3:21977897-21977915
44	MAFK	chr3:21978730-21978939	HepG2	liver:	n/a	n/a
45	MAFK	chr3:21977705-21977972	H1-hESC	embryonic stem cell:	n/a	chr3:21977901-21977915 chr3:21977898-21977913 chr3:21977894-21977911 chr3:21977898-21977914
46	MAFK	chr3:21978731-21978858	HepG2	liver:	n/a	n/a
47	MAFK	chr3:21977720-21978059	IMR90	lung:	n/a	chr3:21977901-21977915 chr3:21977898-21977913 chr3:21977894-21977911 chr3:21977898-21977914
48	MAFK	chr3:21977729-21978067	HepG2	liver:	n/a	chr3:21977901-21977915 chr3:21977898-21977913 chr3:21977894-21977911 chr3:21977898-21977914
49	MAFK	chr3:21977733-21978031	HepG2	liver:	n/a	chr3:21977901-21977915 chr3:21977898-21977913 chr3:21977894-21977911 chr3:21977898-21977914
50	MYC	chr3:21996171-21996576	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:126141332..126144254-chr3:22001697..22003217,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UBE2E2-2	chr3:21998631-21998684	ENSG00000223351
2	lnc-UBE2E2-7	chr3:21982020-21982219	l_2330_chr3:21975326-21982219_testes
3	lnc-UBE2E2-2	chr3:22002908-22003032	ENSG00000223351
4	lnc-UBE2E2-2	chr3:21998628-21998684	ENSG00000223351
5	lnc-UBE2E2-7	chr3:21975327-21975419	l_2330_chr3:21975326-21982219_testes
6	lnc-UBE2E2-2	chr3:22000324-22000415	ENSG00000223351
7	lnc-UBE2E2-2	chr3:21984058-21984156	ENSG00000223351
8	lnc-UBE2E2-2	chr3:22000324-22000415	ENSG00000223351

Variant related genes	Relation type
ZNF385D-AS2	TF binding region
ENSG00000110074	chromatin interactions

Extended variants
information (count: 2191 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:2191 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188389210	chr3:21971878-21971879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs576927895	chr3:21971921-21971922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs77819710	chr3:21971940-21971941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs552990337	chr3:21971942-21971943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs574775868	chr3:21971989-21971990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs542585544	chr3:21972008-21972009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs180869555	chr3:21972048-21972049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs112945742	chr3:21972052-21972053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs146566601	chr3:21972064-21972065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs77697229	chr3:21972072-21972073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs565023062	chr3:21972090-21972091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs532252278	chr3:21972117-21972118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs114008059	chr3:21972146-21972147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs139195920	chr3:21972161-21972162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs141547081	chr3:21972190-21972191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs548634885	chr3:21972195-21972196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs186510706	chr3:21972204-21972205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs189669550	chr3:21972219-21972220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs150480409	chr3:21972223-21972224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs570702912	chr3:21972233-21972234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs181809753	chr3:21972246-21972247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs138343462	chr3:21972271-21972272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs376609751	chr3:21972275-21972276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs574777176	chr3:21972297-21972298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs186839167	chr3:21972301-21972302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs375015611	chr3:21972322-21972323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs557043510	chr3:21972325-21972326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs576287665	chr3:21972412-21972413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs9809338	chr3:21972424-21972425	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs368726998	chr3:21972457-21972458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs79125068	chr3:21972493-21972494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs146172375	chr3:21972498-21972499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541155442	chr3:21972521-21972522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190441390	chr3:21972528-21972529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541233821	chr3:21972571-21972572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs259482	chr3:21972583-21972584	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs530446864	chr3:21972608-21972609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548173440	chr3:21972655-21972656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113259450	chr3:21972676-21972677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs137894452	chr3:21972677-21972678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs115889405	chr3:21972678-21972679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564241706	chr3:21972688-21972689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552448347	chr3:21972703-21972704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183391879	chr3:21972708-21972709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186252301	chr3:21972764-21972765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369865638	chr3:21972765-21972766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189883659	chr3:21972804-21972805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535530892	chr3:21972809-21972810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs1684481	chr3:21972835-21972836	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs575537215	chr3:21972853-21972854	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:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:21971800-21972400	Enhancers	NHDF-Ad	bronchial
2	chr3:21971800-21983800	Weak transcription	Fetal Heart	heart
3	chr3:21975600-21976800	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr3:21975800-21976400	Enhancers	Brain Germinal Matrix	brain
5	chr3:21976000-21976400	Enhancers	Fetal Lung	lung
6	chr3:21976400-21981800	Weak transcription	Fetal Lung	lung
7	chr3:21979800-21980200	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr3:21979800-21980200	Enhancers	HSMM	muscle
9	chr3:21980600-21982600	Enhancers	Fetal Stomach	stomach
10	chr3:21981800-21982000	Enhancers	Fetal Lung	lung
11	chr3:21982000-21987200	Weak transcription	Fetal Lung	lung
12	chr3:21982600-21983800	Weak transcription	Fetal Stomach	stomach
13	chr3:21983800-21984400	Enhancers	Fetal Stomach	stomach
14	chr3:21983800-21984600	Enhancers	Fetal Heart	heart
15	chr3:21983800-21984800	Enhancers	NHLF	lung
16	chr3:21984000-21984200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr3:21984000-21984200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr3:21984000-21984200	Enhancers	NH-A	brain
19	chr3:21984000-21984600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr3:21984000-21984600	Enhancers	Muscle Satellite Cultured Cells	--
21	chr3:21984000-21984600	Enhancers	NHDF-Ad	bronchial
22	chr3:21984200-21985200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr3:21984200-21985400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr3:21984400-21985200	Weak transcription	Fetal Stomach	stomach
25	chr3:21984600-21985600	Weak transcription	NHDF-Ad	bronchial
26	chr3:21984600-21985800	Weak transcription	Fetal Heart	heart
27	chr3:21984600-21985800	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr3:21984600-21986000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr3:21984600-21996000	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr3:21984800-21988400	Weak transcription	NHLF	lung
31	chr3:21985200-21986000	Active TSS	Fetal Stomach	stomach
32	chr3:21985200-21987400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr3:21985400-21985600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr3:21985400-21985800	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr3:21985400-21986200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr3:21985600-21985800	Enhancers	NHDF-Ad	bronchial
37	chr3:21985600-21986000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr3:21985600-21986000	Active TSS	Stomach Smooth Muscle	stomach
39	chr3:21985600-21986400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr3:21985800-21986200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr3:21985800-21986200	Enhancers	Fetal Heart	heart
42	chr3:21985800-21986200	Flanking Active TSS	NHDF-Ad	bronchial
43	chr3:21985800-21986400	Enhancers	Fetal Kidney	kidney
44	chr3:21985800-21986800	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr3:21986000-21986200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr3:21986000-21986200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr3:21986000-21986200	Enhancers	NH-A	brain
48	chr3:21986000-21986600	Weak transcription	Fetal Stomach	stomach
49	chr3:21986200-21987200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr3:21986200-21987200	Weak transcription	NHDF-Ad	bronchial

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