Variant report

Variant	esv2759894
Chromosome Location	chr12:39041835-39045983
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 172 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:172 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2630781	chr12:39041835-39041836	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs543287546	chr12:39041952-39041953	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563064673	chr12:39041965-39041966	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143857485	chr12:39041971-39041972	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs146368942	chr12:39041977-39041978	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs139662949	chr12:39041981-39041982	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs2630780	chr12:39042007-39042008	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs386762295	chr12:39042017-39042018	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs12308687	chr12:39042018-39042019	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs144378925	chr12:39042019-39042020	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528379578	chr12:39042034-39042035	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187668234	chr12:39042037-39042038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs1486341	chr12:39042063-39042064	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs558736798	chr12:39042084-39042085	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542681810	chr12:39042165-39042166	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs145275566	chr12:39042221-39042222	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554737424	chr12:39042227-39042228	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574350953	chr12:39042230-39042231	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543020580	chr12:39042232-39042233	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563314558	chr12:39042252-39042253	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs1486342	chr12:39042297-39042298	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs529119026	chr12:39042329-39042330	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545301653	chr12:39042384-39042385	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1486343	chr12:39042412-39042413	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs568890148	chr12:39042418-39042419	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs77746191	chr12:39042443-39042444	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12310370	chr12:39042447-39042448	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs561074438	chr12:39042540-39042541	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539394261	chr12:39042568-39042569	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7964853	chr12:39042645-39042646	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549866473	chr12:39042667-39042668	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs570033972	chr12:39042686-39042687	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs76347535	chr12:39042733-39042734	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536980702	chr12:39042739-39042740	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552544575	chr12:39042745-39042746	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540293177	chr12:39042768-39042769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs151236021	chr12:39042782-39042783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141448124	chr12:39042784-39042785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192771371	chr12:39042797-39042798	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147001385	chr12:39042806-39042807	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537162462	chr12:39042882-39042883	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111265527	chr12:39042899-39042900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs138135022	chr12:39042911-39042912	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188702196	chr12:39042912-39042913	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs142200498	chr12:39042999-39043000	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572284211	chr12:39043013-39043014	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113246955	chr12:39043018-39043019	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191658701	chr12:39043047-39043048	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184339258	chr12:39043050-39043051	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188769446	chr12:39043066-39043067	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Autism	20858243	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Cancer	20164920	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39039400-39053000	Weak transcription	Left Ventricle	heart
2	chr12:39039800-39055800	Weak transcription	Hela-S3	cervix
3	chr12:39041400-39049400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr12:39041800-39043000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:39042400-39043200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:39042600-39043200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr12:39043000-39043400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr12:39043200-39044000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:39043200-39049800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr12:39043400-39045200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr12:39043600-39043800	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr12:39043800-39050600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr12:39044000-39045200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:39044200-39055400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr12:39044600-39046400	Weak transcription	Liver	Liver
16	chr12:39044600-39046400	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr12:39044800-39046400	Weak transcription	GM12878-XiMat	blood
18	chr12:39045000-39046800	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr12:39045200-39045800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr12:39045200-39045800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr12:39045200-39055400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr12:39045400-39068000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr12:39045800-39047400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr12:39045800-39050200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links