Variant report

Variant	esv3439212
Chromosome Location	chr3:43257514-43258236
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:43203368..43203905-chr3:43256948..43257808,2	MCF-7	breast:
2	chr3:43257334..43257885-chr3:43419375..43420223,2	K562	blood:
3	chr3:43254448..43258211-chr3:43258239..43261327,4	K562	blood:
4	chr3:43235922..43238512-chr3:43256089..43258366,2	K562	blood:
5	chr3:43233608..43236021-chr3:43256055..43258322,2	MCF-7	breast:
6	chr3:43256868..43257655-chr3:43265030..43265781,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146814547	chr3:43257535-43257536	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs541753188	chr3:43257538-43257539	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554931985	chr3:43257541-43257542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187588057	chr3:43257553-43257554	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs540681476	chr3:43257561-43257562	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs74597484	chr3:43257566-43257567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532910399	chr3:43257574-43257575	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192995536	chr3:43257594-43257595	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs73829182	chr3:43257608-43257609	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs140665182	chr3:43257657-43257658	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558163687	chr3:43257673-43257674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548947740	chr3:43257695-43257696	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568664344	chr3:43257698-43257699	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542781293	chr3:43257702-43257703	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs9833793	chr3:43257745-43257746	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs570895490	chr3:43257783-43257784	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs115295077	chr3:43257800-43257801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs151120921	chr3:43257802-43257803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs569553430	chr3:43257810-43257811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs4683367	chr3:43257827-43257828	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs530496801	chr3:43257833-43257834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs555597517	chr3:43257836-43257837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs141083652	chr3:43257847-43257848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs4683368	chr3:43257872-43257873	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs557499035	chr3:43257908-43257909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs150265416	chr3:43257912-43257913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs6785440	chr3:43257913-43257914	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs377521606	chr3:43257954-43257955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs6785539	chr3:43257969-43257970	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs188767062	chr3:43257972-43257973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs58209397	chr3:43257995-43257996	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs534925436	chr3:43258065-43258066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs527997456	chr3:43258102-43258103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs192182434	chr3:43258161-43258162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs58504881	chr3:43258175-43258176	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs570788523	chr3:43258177-43258178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs199610195	chr3:43258221-43258222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs200353014	chr3:43258222-43258223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs201525332	chr3:43258223-43258224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs199555120	chr3:43258224-43258225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs200697718	chr3:43258225-43258226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs202039042	chr3:43258226-43258227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
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
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	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
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Wilms tumour	17204608	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-small cell lung cancer	21829676	CNVD
Kartagener syndrome	16639409	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Breast cancer	21509527	CNVD
Melanoma	21693616	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Breast cancer	20409316	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21364760	CNVD
abnormal development	18461090	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43245000-43258800	Weak transcription	Right Atrium	heart
2	chr3:43247800-43259000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:43253200-43262400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr3:43253400-43259000	Weak transcription	Spleen	Spleen
5	chr3:43254000-43258000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr3:43254200-43257800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr3:43256200-43266800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr3:43256200-43267000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr3:43256400-43257800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr3:43256400-43257800	Enhancers	Pancreas	Pancrea
11	chr3:43256600-43260600	Weak transcription	Fetal Kidney	kidney
12	chr3:43256600-43264000	Enhancers	Primary T cells from cord blood	blood
13	chr3:43256800-43261000	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr3:43256800-43264800	Enhancers	Fetal Thymus	thymus
15	chr3:43256800-43264800	Enhancers	Thymus	Thymus
16	chr3:43257000-43260400	Enhancers	NHEK	skin
17	chr3:43257000-43262400	Weak transcription	Fetal Intestine Small	intestine
18	chr3:43257200-43257800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr3:43257200-43260400	Enhancers	Primary T cells fromperipheralblood	blood
20	chr3:43257200-43260400	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr3:43257200-43260600	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr3:43257200-43269400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr3:43257400-43257600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr3:43257400-43257800	Enhancers	Left Ventricle	heart
25	chr3:43257400-43257800	Enhancers	Lung	lung
26	chr3:43257400-43266600	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr3:43257600-43258200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr3:43257800-43258600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr3:43257800-43259000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr3:43257800-43260000	Weak transcription	Left Ventricle	heart
31	chr3:43257800-43262600	Weak transcription	Pancreas	Pancrea
32	chr3:43258000-43259000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr3:43258200-43259600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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