Variant report

Variant	esv1812798
Chromosome Location	chr3:60984540-60996220
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 426 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:426 , 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	rs558816212	chr3:60984553-60984554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs577011246	chr3:60984558-60984559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs150136545	chr3:60984559-60984560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs113578770	chr3:60984586-60984587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs61361702	chr3:60984588-60984589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537215932	chr3:60984619-60984620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs145580227	chr3:60984711-60984712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs528986536	chr3:60984775-60984776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs185470782	chr3:60984776-60984777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs149860902	chr3:60984844-60984845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs116070484	chr3:60984854-60984855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs528007075	chr3:60984875-60984876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs546353232	chr3:60984889-60984890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs371295216	chr3:60984931-60984932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs564384527	chr3:60984971-60984972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs377119022	chr3:60984982-60984983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs531680848	chr3:60985009-60985010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs527876532	chr3:60985018-60985019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs148902917	chr3:60985024-60985025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs115117331	chr3:60985065-60985066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs35825854	chr3:60985143-60985144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs529306093	chr3:60985146-60985147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs34196389	chr3:60985152-60985153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs145605777	chr3:60985155-60985156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs547511509	chr3:60985177-60985178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs189786760	chr3:60985236-60985237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs566737750	chr3:60985250-60985251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs533889325	chr3:60985342-60985343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs375030671	chr3:60985385-60985386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs558777260	chr3:60985391-60985392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs138179765	chr3:60985414-60985415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs184164595	chr3:60985491-60985492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs73104206	chr3:60985524-60985525	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs574316574	chr3:60985530-60985531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs76013849	chr3:60985597-60985598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs79191485	chr3:60985608-60985609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs573537963	chr3:60985632-60985633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs546127255	chr3:60985644-60985645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs142768633	chr3:60985660-60985661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531810138	chr3:60985721-60985722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs79450892	chr3:60985735-60985736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562196581	chr3:60985747-60985748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529399925	chr3:60985754-60985755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371382644	chr3:60985767-60985768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547769533	chr3:60985818-60985819	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs73836081	chr3:60985877-60985878	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs557034967	chr3:60985891-60985892	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs527542212	chr3:60985915-60985916	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs568319695	chr3:60985955-60985956	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552502213	chr3:60985969-60985970	Enhancers Weak transcription	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
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
Colorectal cancer	21518781	CNVD
Esophageal cancer	21518781	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bipolar disorder	19114987	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:60978400-60997600	Weak transcription	Pancreas	Pancrea
2	chr3:60983000-60985800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:60984400-60985600	Enhancers	Fetal Lung	lung
4	chr3:60984800-60985200	Enhancers	Brain Substantia Nigra	brain
5	chr3:60985000-60988600	Weak transcription	Aorta	Aorta
6	chr3:60985800-60986000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr3:60985800-60986000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:60988000-60988200	Enhancers	Esophagus	oesophagus
9	chr3:60988200-60988400	Weak transcription	Esophagus	oesophagus
10	chr3:60988200-60988800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr3:60988200-60988800	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr3:60988600-60988800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr3:60988800-60992600	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr3:60988800-60993200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr3:60989000-60993200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr3:60990200-60991400	Weak transcription	Fetal Heart	heart
17	chr3:60990600-60994600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr3:60991000-60991600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr3:60991400-60991600	Enhancers	Fetal Heart	heart
20	chr3:60991600-60994200	Weak transcription	Fetal Heart	heart
21	chr3:60992600-60993200	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr3:60993200-60993400	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr3:60993200-60994600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr3:60993200-60995000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
25	chr3:60993200-60995200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr3:60993200-60995400	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr3:60993400-60994400	Enhancers	Primary B cells from cord blood	blood
28	chr3:60993400-60994400	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr3:60993400-60995000	Enhancers	Brain Hippocampus Middle	brain
30	chr3:60993400-60995000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr3:60993600-60993800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr3:60993600-60995000	Enhancers	Primary B cells from peripheral blood	blood
33	chr3:60993600-60995000	Enhancers	Brain Anterior Caudate	brain
34	chr3:60993600-60995200	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr3:60993800-60994200	Enhancers	Fetal Brain Female	brain
36	chr3:60993800-60994400	Enhancers	Brain Cingulate Gyrus	brain
37	chr3:60993800-60994600	Enhancers	Brain Angular Gyrus	brain
38	chr3:60993800-60995000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr3:60993800-60995000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr3:60993800-60995200	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr3:60993800-60995200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr3:60993800-60995200	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr3:60993800-60995200	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr3:60994000-60994800	Enhancers	H9 Cell Line	embryonic stem cell
45	chr3:60994000-60995000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr3:60994000-60995000	Enhancers	Brain Germinal Matrix	brain
47	chr3:60994000-60995000	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr3:60994000-60995000	Enhancers	Brain Substantia Nigra	brain
49	chr3:60994000-60995200	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr3:60994000-60995200	Enhancers	Primary hematopoietic stem cells	blood

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