Variant report

Variant	esv3329187
Chromosome Location	chr6:149459410-149459857
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:149452280..149455428-chr6:149458542..149462690,3	MCF-7	breast:
2	chr6:149449471..149451391-chr6:149458352..149459927,2	K562	blood:
3	chr6:149459494..149462226-chr6:149474198..149476247,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375978751	chr6:149459436-149459437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs7758947	chr6:149459469-149459470	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs535341497	chr6:149459495-149459496	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs191104137	chr6:149459496-149459497	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs114207556	chr6:149459563-149459564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs73598093	chr6:149459585-149459586	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs551872618	chr6:149459590-149459591	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs61660880	chr6:149459596-149459597	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs528277236	chr6:149459732-149459733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs548043638	chr6:149459774-149459775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs34824101	chr6:149459775-149459776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs11434416	chr6:149459777-149459778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs57596587	chr6:149459778-149459779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs398066379	chr6:149459786-149459787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs397823151	chr6:149459787-149459788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs57292049	chr6:149459805-149459806	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs556264189	chr6:149459807-149459808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149450000-149461200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr6:149450200-149461200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr6:149456800-149461200	Weak transcription	Fetal Lung	lung
4	chr6:149458000-149461200	Enhancers	Primary T cells fromperipheralblood	blood
5	chr6:149458000-149461400	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr6:149458600-149461000	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr6:149458800-149459600	Enhancers	Adipose Nuclei	Adipose
8	chr6:149458800-149460800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr6:149459000-149459600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr6:149459000-149459600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr6:149459000-149461000	Enhancers	K562	blood
12	chr6:149459000-149461400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr6:149459000-149461400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr6:149459000-149462000	Enhancers	Primary hematopoietic stem cells	blood
15	chr6:149459200-149460200	Enhancers	Esophagus	oesophagus
16	chr6:149459200-149460200	Enhancers	Fetal Muscle Trunk	muscle
17	chr6:149459200-149461000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr6:149459200-149461000	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr6:149459200-149461200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr6:149459200-149461400	Enhancers	Dnd41	blood
21	chr6:149459400-149459800	Enhancers	Liver	Liver
22	chr6:149459400-149461000	Enhancers	GM12878-XiMat	blood
23	chr6:149459400-149461200	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr6:149459400-149461200	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr6:149459400-149461200	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr6:149459400-149461600	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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