Variant report

Variant	esv20823
Chromosome Location	chr3:21997842-22002489
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr3:22000640-22000790	HFF	foreskin:	n/a	n/a
2	CTCF	chr3:21998853-21998886	GM13976	blood:	n/a	n/a
3	GATA3	chr3:22000365-22000565	SH-SY5Y	brain:	n/a	n/a
4	POLR2A	chr3:21999444-21999644	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr3:22001068-22001096	MCF10A-Er-Src	breast:	n/a	n/a
6	STAT3	chr3:22002310-22002412	MCF10A-Er-Src	breast:	n/a	n/a
7	STAT3	chr3:21999887-22000040	MCF10A-Er-Src	breast:	n/a	chr3:21999968-21999979
8	STAT3	chr3:21999563-21999682	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:1 , 50 per page) page: 1

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

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UBE2E2-2	chr3:22000324-22000415	ENSG00000223351
2	lnc-UBE2E2-2	chr3:22000324-22000415	ENSG00000223351
3	lnc-UBE2E2-2	chr3:21998628-21998684	ENSG00000223351
4	lnc-UBE2E2-2	chr3:21998631-21998684	ENSG00000223351

No data

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

Extended variants
information (count: 264 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:264 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13061226	chr3:21997844-21997845	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs573288975	chr3:21997855-21997856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200657262	chr3:21997877-21997878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs9811248	chr3:21997885-21997886	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs557386000	chr3:21997892-21997893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs75815395	chr3:21997929-21997930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs17644255	chr3:21997961-21997962	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs369583221	chr3:21997991-21997992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148991855	chr3:21998009-21998010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs9811419	chr3:21998020-21998021	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs540813544	chr3:21998029-21998030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559050505	chr3:21998091-21998092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs145893679	chr3:21998092-21998093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547822572	chr3:21998123-21998124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs146643412	chr3:21998150-21998151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11714758	chr3:21998153-21998154	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs369259377	chr3:21998156-21998157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571088177	chr3:21998179-21998180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs139835458	chr3:21998189-21998190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531476861	chr3:21998257-21998258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192176714	chr3:21998276-21998277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553579506	chr3:21998334-21998335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs140226275	chr3:21998336-21998337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535964517	chr3:21998347-21998348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs554999448	chr3:21998360-21998361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs4348015	chr3:21998379-21998380	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs182256916	chr3:21998390-21998391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs13089036	chr3:21998409-21998410	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs386659233	chr3:21998462-21998463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs1486332	chr3:21998465-21998466	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs111562898	chr3:21998484-21998485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186775056	chr3:21998493-21998494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs77850180	chr3:21998502-21998503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs1486333	chr3:21998516-21998517	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs1843634	chr3:21998549-21998550	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs541526952	chr3:21998564-21998565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs259564	chr3:21998642-21998643	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs191269759	chr3:21998658-21998659	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs182676776	chr3:21998669-21998670	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs565557	chr3:21998701-21998702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs147986411	chr3:21998705-21998706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141656909	chr3:21998724-21998725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs9816540	chr3:21998745-21998746	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs150116155	chr3:21998767-21998768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551014784	chr3:21998789-21998790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs192907207	chr3:21998790-21998791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549389116	chr3:21998813-21998814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539478517	chr3:21998818-21998819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558130858	chr3:21998820-21998821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs149305614	chr3:21998838-21998839	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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:21997400-22003000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr3:21997600-22003200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr3:21997800-22000600	Weak transcription	Liver	Liver
4	chr3:22000600-22002200	Enhancers	Liver	Liver
5	chr3:22001200-22001400	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr3:22001600-22003600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr3:22002200-22003600	Weak transcription	Liver	Liver

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