Variant report

Variant	esv3350221
Chromosome Location	chr6:149992966-149993392
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186005670	chr6:149992969-149992970	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs190807099	chr6:149993009-149993010	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552016015	chr6:149993032-149993033	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34908424	chr6:149993042-149993043	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565651025	chr6:149993054-149993055	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537637947	chr6:149993058-149993059	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528069174	chr6:149993100-149993101	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184239068	chr6:149993110-149993111	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568137025	chr6:149993118-149993119	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536894081	chr6:149993134-149993135	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs66516768	chr6:149993135-149993136	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs557584945	chr6:149993191-149993192	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570423480	chr6:149993197-149993198	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548179750	chr6:149993215-149993216	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539311475	chr6:149993225-149993226	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558548311	chr6:149993266-149993267	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187213267	chr6:149993272-149993273	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541398747	chr6:149993277-149993278	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554814491	chr6:149993307-149993308	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs78440487	chr6:149993326-149993327	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567672333	chr6:149993339-149993340	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113571174	chr6:149993352-149993353	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371276333	chr6:149993357-149993358	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Autism	22495311	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
Cancer	17160897	CNVD
Breast cancer	17417639	CNVD
Breast cancer	17850661	CNVD
Renal cell carcinoma	18765545	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20556506	CNVD
Hirschsprung''s Disease	21712996	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Lung adenocarcinoma	21935476	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD

Chromatin state (count:132 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149970400-149996400	Weak transcription	Fetal Brain Male	brain
2	chr6:149977200-150022600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:149977400-150001600	Strong transcription	Placenta	Placenta
4	chr6:149977800-150001800	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr6:149977800-150005800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr6:149977800-150020600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr6:149978000-150029200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:149979400-149995800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr6:149980000-150003400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr6:149980000-150008000	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr6:149980200-149998600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr6:149980400-149995800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr6:149980400-149997200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr6:149980400-149998600	Strong transcription	Duodenum Mucosa	Duodenum
15	chr6:149980400-150001600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr6:149980600-150024800	Strong transcription	Fetal Thymus	thymus
17	chr6:149980800-149998000	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr6:149980800-150005800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr6:149981200-149999000	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr6:149981200-150018800	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr6:149981800-150001600	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr6:149982200-150001600	Strong transcription	Fetal Intestine Large	intestine
23	chr6:149982400-150004400	Weak transcription	Right Atrium	heart
24	chr6:149982600-150001600	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr6:149982800-149993000	Strong transcription	Stomach Smooth Muscle	stomach
26	chr6:149982800-149998400	Strong transcription	Adipose Nuclei	Adipose
27	chr6:149982800-149998800	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr6:149982800-150001800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr6:149982800-150003400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr6:149983000-149998800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr6:149983000-149999200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr6:149983000-150001600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr6:149983400-150004200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr6:149983600-149999200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr6:149983800-149998000	Strong transcription	Lung	lung
36	chr6:149983800-149999400	Strong transcription	Fetal Stomach	stomach
37	chr6:149983800-150004400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr6:149983800-150005800	Strong transcription	Fetal Muscle Trunk	muscle
39	chr6:149984600-149996400	Weak transcription	Psoas Muscle	Psoas
40	chr6:149984600-149996600	Weak transcription	NHEK	skin
41	chr6:149984600-150004400	Weak transcription	A549	lung
42	chr6:149984800-149998400	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr6:149985600-149998800	Strong transcription	Thymus	Thymus
44	chr6:149986800-149995400	Weak transcription	NHLF	lung
45	chr6:149987000-150036800	Weak transcription	Hela-S3	cervix
46	chr6:149987800-149994200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr6:149988000-149993000	Strong transcription	HepG2	liver
48	chr6:149988000-149998600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr6:149988000-150002200	Strong transcription	Liver	Liver
50	chr6:149988200-149998000	Strong transcription	Fetal Brain Female	brain

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