Variant report

Variant	esv3500708
Chromosome Location	chr6:145086738-145087316
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:145056718..145059016-chr6:145087206..145088827,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181470784	chr6:145086747-145086748	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs562061298	chr6:145086797-145086798	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs118120383	chr6:145086873-145086874	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs185569582	chr6:145086962-145086963	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs368805432	chr6:145086974-145086975	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs569210021	chr6:145086975-145086976	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs539644589	chr6:145086986-145086987	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540068688	chr6:145087010-145087011	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs139005658	chr6:145087022-145087023	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs189983400	chr6:145087132-145087133	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs566794232	chr6:145087143-145087144	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs376873250	chr6:145087144-145087145	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs182233340	chr6:145087165-145087166	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs554990159	chr6:145087195-145087196	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs566911503	chr6:145087211-145087212	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs144641517	chr6:145087213-145087214	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs556226567	chr6:145087222-145087223	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs187443397	chr6:145087225-145087226	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs191020454	chr6:145087266-145087267	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs200214032	chr6:145087270-145087271	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs9390213	chr6:145087271-145087272	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs74387994	chr6:145087272-145087273	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs367869810	chr6:145087283-145087284	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs147564274	chr6:145087289-145087290	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
lymphocytic leukemia	21291569	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
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Follicular lymphoma	18703704	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:145011800-145090200	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr6:145011800-145096600	Weak transcription	Thymus	Thymus
3	chr6:145024000-145087200	Weak transcription	Psoas Muscle	Psoas
4	chr6:145040000-145094600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr6:145040000-145114600	Weak transcription	NHLF	lung
6	chr6:145046000-145122200	Weak transcription	Colonic Mucosa	Colon
7	chr6:145047600-145096600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr6:145047600-145115000	Weak transcription	Esophagus	oesophagus
9	chr6:145047600-145115000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr6:145049400-145098400	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr6:145049600-145088800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr6:145054000-145095600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr6:145054200-145093400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr6:145054400-145100000	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr6:145059600-145096600	Weak transcription	Lung	lung
16	chr6:145059600-145097400	Weak transcription	Spleen	Spleen
17	chr6:145059800-145096600	Weak transcription	Fetal Stomach	stomach
18	chr6:145066200-145090200	Weak transcription	Fetal Kidney	kidney
19	chr6:145066200-145126200	Weak transcription	Stomach Mucosa	stomach
20	chr6:145066400-145087800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr6:145066400-145090400	Weak transcription	Pancreas	Pancrea
22	chr6:145066400-145090600	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr6:145067800-145115800	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr6:145068800-145090600	Weak transcription	Small Intestine	intestine
25	chr6:145068800-145115000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr6:145069000-145089200	Weak transcription	HSMMtube	muscle
27	chr6:145069600-145093400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr6:145069800-145094200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr6:145069800-145101800	Weak transcription	Aorta	Aorta
30	chr6:145070000-145090600	Weak transcription	Left Ventricle	heart
31	chr6:145070000-145092600	Weak transcription	Fetal Intestine Small	intestine
32	chr6:145070200-145088600	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr6:145070200-145094000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr6:145070600-145094400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr6:145072200-145101800	Weak transcription	Fetal Intestine Large	intestine
36	chr6:145072600-145094800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr6:145072800-145093600	Weak transcription	Placenta	Placenta
38	chr6:145073200-145105400	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr6:145073400-145090200	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr6:145073800-145089200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr6:145073800-145089800	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr6:145074200-145087200	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr6:145074200-145089400	Weak transcription	Fetal Heart	heart
44	chr6:145074400-145094000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr6:145074600-145087600	Weak transcription	Fetal Muscle Leg	muscle
46	chr6:145074600-145089000	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr6:145074600-145089600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr6:145074600-145089800	Weak transcription	NHDF-Ad	bronchial
49	chr6:145074600-145094400	Weak transcription	Osteobl	bone
50	chr6:145075000-145108800	Strong transcription	Primary B cells from cord blood	blood

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