Variant report

Variant	nsv1007663
Chromosome Location	chr3:21984364-22022923
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	chr3:21996174-21996533	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr3:22021993-22022316	HepG2	liver:	n/a	n/a
3	CEBPB	chr3:21996134-21996664	IMR90	lung:	n/a	n/a
4	CTCF	chr3:21998853-21998886	GM13976	blood:	n/a	n/a
5	CTCF	chr3:21996780-21996930	GM06990	blood:	n/a	n/a
6	CTCF	chr3:21988251-21988325	LNCaP	prostate:	n/a	n/a
7	CTCF	chr3:22012637-22012708	Lung_OC	lung:	n/a	n/a
8	CTCF	chr3:22000640-22000790	HFF	foreskin:	n/a	n/a
9	E2F4	chr3:21995949-21996485	MCF10A-Er-Src	breast:	n/a	n/a
10	E2F4	chr3:22021506-22021698	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	chr3:21996206-21996540	Hela-S3	cervix:	n/a	n/a
14	FOS	chr3:22021191-22021624	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr3:22004212-22004269	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr3:21996203-21996529	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr3:22021192-22021594	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr3:21996970-21997170	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr3:22021191-22021572	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr3:21996172-21996566	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr3:21996984-21997174	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr3:22009885-22010052	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr3:21995955-21996602	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr3:22021248-22021614	MCF10A-Er-Src	breast:	n/a	n/a
25	FOS	chr3:22009928-22010025	MCF10A-Er-Src	breast:	n/a	n/a
26	FOS	chr3:21996160-21996599	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr3:22009897-22010001	MCF10A-Er-Src	breast:	n/a	n/a
28	GATA3	chr3:21983576-21984442	SK-N-SH	brain:	n/a	n/a
29	GATA3	chr3:22000365-22000565	SH-SY5Y	brain:	n/a	n/a
30	JUN	chr3:22011822-22012021	K562	blood:	n/a	n/a
31	MAFF	chr3:22013012-22013125	HepG2	liver:	n/a	chr3:22013095-22013113
32	MAFK	chr3:22013061-22013129	HepG2	liver:	n/a	chr3:22013096-22013111
33	MAFK	chr3:22012964-22013163	HepG2	liver:	n/a	chr3:22013096-22013111
34	MYC	chr3:21990003-21990164	MCF10A-Er-Src	breast:	n/a	n/a
35	MYC	chr3:22021255-22021522	MCF10A-Er-Src	breast:	n/a	n/a
36	MYC	chr3:21996171-21996576	MCF10A-Er-Src	breast:	n/a	n/a
37	MYC	chr3:21983527-21984403	MCF10A-Er-Src	breast:	n/a	chr3:21983960-21983970 chr3:21983960-21983969
38	MYC	chr3:21997082-21997236	MCF10A-Er-Src	breast:	n/a	n/a
39	MYC	chr3:21983781-21984466	MCF10A-Er-Src	breast:	n/a	chr3:21983960-21983970 chr3:21983960-21983969
40	MYC	chr3:22021283-22021440	MCF10A-Er-Src	breast:	n/a	n/a
41	PBX3	chr3:21983745-21984452	SK-N-SH	brain:	n/a	n/a
42	POLR2A	chr3:21986019-21986139	MCF10A-Er-Src	breast:	n/a	n/a
43	POLR2A	chr3:21999444-21999644	MCF10A-Er-Src	breast:	n/a	n/a
44	POLR2A	chr3:22013212-22013219	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr3:21987099-21987264	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr3:22011176-22011202	A549	lung:	n/a	n/a
47	POLR2A	chr3:21990551-21990561	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr3:22020878-22021161	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr3:21983795-21984428	H1-neurons	neurons:	n/a	n/a
50	POLR2A	chr3:21996952-21997212	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	chr3:21998628-21998684	ENSG00000223351
2	lnc-UBE2E2-2	chr3:22021123-22021320	ENSG00000223351
3	lnc-UBE2E2-2	chr3:22019707-22019783	ENSG00000223351
4	lnc-UBE2E2-2	chr3:21998631-21998684	ENSG00000223351
5	lnc-UBE2E2-2	chr3:22000324-22000415	ENSG00000223351
6	lnc-UBE2E2-2	chr3:22000324-22000415	ENSG00000223351
7	lnc-UBE2E2-2	chr3:22002908-22003032	ENSG00000223351

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

Extended variants
information (count: 1685 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:1685 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12636900	chr3:21984364-21984365	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs559520800	chr3:21984366-21984367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs530163288	chr3:21984367-21984368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs77058765	chr3:21984464-21984465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs542685426	chr3:21984467-21984468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537074512	chr3:21984496-21984497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs146345206	chr3:21984504-21984505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs562777757	chr3:21984511-21984512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs531878813	chr3:21984531-21984532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs571490929	chr3:21984571-21984572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs61571275	chr3:21984596-21984597	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs551696076	chr3:21984645-21984646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs186606406	chr3:21984667-21984668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs189394263	chr3:21984669-21984670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs182075310	chr3:21984677-21984678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs554387944	chr3:21984695-21984696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs568153	chr3:21984720-21984721	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs543061713	chr3:21984756-21984757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs200066231	chr3:21984767-21984768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs564889190	chr3:21984800-21984801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs139357748	chr3:21984802-21984803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs569088	chr3:21984815-21984816	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs561525320	chr3:21984835-21984836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs567619752	chr3:21984846-21984847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs559555763	chr3:21984897-21984898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs530247131	chr3:21984982-21984983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs548735978	chr3:21984986-21984987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs186590155	chr3:21985006-21985007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs79400526	chr3:21985013-21985014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs55976729	chr3:21985014-21985015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs552334741	chr3:21985026-21985027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs675104	chr3:21985039-21985040	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs10539978	chr3:21985058-21985059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs674639	chr3:21985137-21985138	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs547727461	chr3:21985139-21985140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs565949687	chr3:21985187-21985188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs375596101	chr3:21985210-21985211	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs536451872	chr3:21985228-21985229	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs56067287	chr3:21985259-21985260	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs554710129	chr3:21985278-21985279	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs190426365	chr3:21985280-21985281	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs114772226	chr3:21985285-21985286	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs558299971	chr3:21985309-21985310	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs34187078	chr3:21985315-21985316	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs183376928	chr3:21985330-21985331	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs553274587	chr3:21985350-21985351	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs9849994	chr3:21985380-21985381	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs542097835	chr3:21985402-21985403	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs529130011	chr3:21985407-21985408	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs519051	chr3:21985417-21985418	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:21982000-21987200	Weak transcription	Fetal Lung	lung
2	chr3:21983800-21984400	Enhancers	Fetal Stomach	stomach
3	chr3:21983800-21984600	Enhancers	Fetal Heart	heart
4	chr3:21983800-21984800	Enhancers	NHLF	lung
5	chr3:21984000-21984600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr3:21984000-21984600	Enhancers	Muscle Satellite Cultured Cells	--
7	chr3:21984000-21984600	Enhancers	NHDF-Ad	bronchial
8	chr3:21984200-21985200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr3:21984200-21985400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:21984400-21985200	Weak transcription	Fetal Stomach	stomach
11	chr3:21984600-21985600	Weak transcription	NHDF-Ad	bronchial
12	chr3:21984600-21985800	Weak transcription	Fetal Heart	heart
13	chr3:21984600-21985800	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr3:21984600-21986000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr3:21984600-21996000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr3:21984800-21988400	Weak transcription	NHLF	lung
17	chr3:21985200-21986000	Active TSS	Fetal Stomach	stomach
18	chr3:21985200-21987400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr3:21985400-21985600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr3:21985400-21985800	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr3:21985400-21986200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr3:21985600-21985800	Enhancers	NHDF-Ad	bronchial
23	chr3:21985600-21986000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr3:21985600-21986000	Active TSS	Stomach Smooth Muscle	stomach
25	chr3:21985600-21986400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr3:21985800-21986200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
27	chr3:21985800-21986200	Enhancers	Fetal Heart	heart
28	chr3:21985800-21986200	Flanking Active TSS	NHDF-Ad	bronchial
29	chr3:21985800-21986400	Enhancers	Fetal Kidney	kidney
30	chr3:21985800-21986800	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr3:21986000-21986200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr3:21986000-21986200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr3:21986000-21986200	Enhancers	NH-A	brain
34	chr3:21986000-21986600	Weak transcription	Fetal Stomach	stomach
35	chr3:21986200-21987200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr3:21986200-21987200	Weak transcription	NHDF-Ad	bronchial
37	chr3:21986400-21986800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr3:21986400-21986800	Weak transcription	Fetal Kidney	kidney
39	chr3:21986800-21987200	Enhancers	Pancreatic Islets	Pancreatic Islet
40	chr3:21986800-21987600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr3:21986800-21987600	Enhancers	Fetal Kidney	kidney
42	chr3:21987200-21987400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr3:21987200-21987400	Enhancers	Fetal Stomach	stomach
44	chr3:21987200-21987400	Enhancers	NHDF-Ad	bronchial
45	chr3:21987200-21987600	Enhancers	Fetal Lung	lung
46	chr3:21987400-21987600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr3:21987400-21993000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr3:21988400-21988600	Enhancers	NHLF	lung
49	chr3:21992800-21994000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr3:21993000-21993800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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