Variant report

Variant	esv1803070
Chromosome Location	chr3:59880142-59887862
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 411 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:411 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17299801	chr3:59880142-59880143	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs535885395	chr3:59880153-59880154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554277673	chr3:59880159-59880160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs573046664	chr3:59880166-59880167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs750794	chr3:59880170-59880171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs377039548	chr3:59880188-59880189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558686673	chr3:59880192-59880193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201998728	chr3:59880209-59880210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs202037287	chr3:59880216-59880217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577145328	chr3:59880240-59880241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs544697921	chr3:59880241-59880242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183727024	chr3:59880278-59880279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs144316962	chr3:59880296-59880297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs17061388	chr3:59880322-59880323	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs367836844	chr3:59880324-59880325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs560286862	chr3:59880333-59880334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs527957448	chr3:59880344-59880345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs552611068	chr3:59880349-59880350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs368256068	chr3:59880371-59880372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs750793	chr3:59880384-59880385	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs531814199	chr3:59880389-59880390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs17061392	chr3:59880398-59880399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs568573653	chr3:59880417-59880418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs185694406	chr3:59880440-59880441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs548141910	chr3:59880460-59880461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs566364051	chr3:59880494-59880495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs112571114	chr3:59880500-59880501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs550163937	chr3:59880519-59880520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs534081075	chr3:59880538-59880539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs190109770	chr3:59880575-59880576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs182694035	chr3:59880589-59880590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs368610337	chr3:59880605-59880606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs116441222	chr3:59880672-59880673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs146563529	chr3:59880696-59880697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs556399714	chr3:59880727-59880728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs574936865	chr3:59880744-59880745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs541979495	chr3:59880770-59880771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs186979578	chr3:59880843-59880844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs113365701	chr3:59880913-59880914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs572382224	chr3:59880917-59880918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs546453350	chr3:59880923-59880924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs115822138	chr3:59880928-59880929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs531894551	chr3:59880948-59880949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs141226733	chr3:59880950-59880951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs192788567	chr3:59880951-59880952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs533151347	chr3:59880969-59880970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs35282656	chr3:59880972-59880973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs548016868	chr3:59881039-59881040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs182497060	chr3:59881040-59881041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs369166035	chr3:59881096-59881097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	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	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	19490591	CNVD
Autism	18414403	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD
Cancer	18162546	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Urothelial cell carcinoma	18451213	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Colorectal cancer	16272173	CNVD
Mental retardation	17847001	CNVD
Neuroticism	17667963	CNVD
Squamous cell cancer	19047905	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Cancer	20164920	CNVD
Schizophrenia	23813976	CNVD
Autism	22102821	CNVD
Prostate cancer	19363497	CNVD
Malaria	21533027	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Colorectal cancer	21518781	CNVD
Esophageal cancer	21518781	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:59868800-59882600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:59872600-59880600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr3:59872600-59880600	Weak transcription	Fetal Thymus	thymus
4	chr3:59872600-59884200	Weak transcription	Dnd41	blood
5	chr3:59873200-59904200	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr3:59875200-59880400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr3:59877200-59880200	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr3:59877200-59880400	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr3:59877800-59880600	Weak transcription	Primary T cells from cord blood	blood
10	chr3:59879200-59880200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr3:59880200-59883200	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr3:59880200-59883400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr3:59880400-59880600	Enhancers	Fetal Brain Male	brain
14	chr3:59880400-59882200	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr3:59880400-59883400	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr3:59880600-59881800	Weak transcription	Fetal Brain Male	brain
17	chr3:59880600-59882200	Enhancers	Fetal Thymus	thymus
18	chr3:59880600-59882400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr3:59880600-59883200	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr3:59880600-59883400	Enhancers	Primary T cells from cord blood	blood
21	chr3:59881400-59882800	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr3:59881600-59882000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr3:59881600-59882000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr3:59881600-59882000	Enhancers	Pancreas	Pancrea
25	chr3:59881800-59882000	Enhancers	Fetal Brain Male	brain
26	chr3:59882000-59882600	Weak transcription	Fetal Brain Male	brain
27	chr3:59882000-59886600	Weak transcription	Pancreas	Pancrea
28	chr3:59882200-59882600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr3:59882200-59882600	Weak transcription	Fetal Thymus	thymus
30	chr3:59882400-59883200	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr3:59882600-59882800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr3:59882600-59882800	Enhancers	Fetal Brain Male	brain
33	chr3:59882600-59882800	Enhancers	Fetal Thymus	thymus
34	chr3:59882600-59882800	Enhancers	Left Ventricle	heart
35	chr3:59882600-59883000	Enhancers	Fetal Heart	heart
36	chr3:59882600-59883600	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr3:59882800-59890200	Weak transcription	Fetal Thymus	thymus
38	chr3:59883000-59884200	Weak transcription	Fetal Heart	heart
39	chr3:59883200-59893000	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr3:59883400-59884400	Weak transcription	Primary T cells from cord blood	blood
41	chr3:59883400-59885600	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr3:59883400-59890200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr3:59883600-59884000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr3:59884000-59884200	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr3:59884200-59885000	Enhancers	Fetal Heart	heart
46	chr3:59884200-59886000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr3:59884200-59887200	Strong transcription	Dnd41	blood
48	chr3:59884400-59887600	Strong transcription	Primary T cells from cord blood	blood
49	chr3:59884600-59885200	Enhancers	Left Ventricle	heart
50	chr3:59884600-59885200	Enhancers	Skeletal Muscle Male	skeletal muscle

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