Variant report

Variant	esv3451363
Chromosome Location	chr6:142478305-142478655
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:142476386..142478985-chr6:142483280..142485789,2	MCF-7	breast:
2	chr6:142470533..142472236-chr6:142476885..142478577,2	K562	blood:
3	chr6:142475480..142479893-chr6:142481592..142484800,4	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571424184	chr6:142478309-142478310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs142634887	chr6:142478324-142478325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs118106510	chr6:142478328-142478329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs554140847	chr6:142478335-142478336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs572693939	chr6:142478384-142478385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs225636	chr6:142478449-142478450	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs10485027	chr6:142478466-142478467	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs186816306	chr6:142478468-142478469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs114436232	chr6:142478492-142478493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs73581623	chr6:142478509-142478510	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs532354037	chr6:142478528-142478529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs225637	chr6:142478569-142478570	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs150583082	chr6:142478605-142478606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs527513000	chr6:142478646-142478647	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
Gastric cancer	17908304	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
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
Breast cancer	21364760	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
Acute monocytic leukemia	16498392	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
craniofacial dysmorphism	21918468	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Burkitt''s lymphoma	19759907	CNVD

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:142468800-142488000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:142469200-142483400	Weak transcription	Aorta	Aorta
3	chr6:142469200-142487800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr6:142469600-142487800	Weak transcription	Fetal Muscle Leg	muscle
5	chr6:142469600-142487800	Weak transcription	Thymus	Thymus
6	chr6:142469800-142481200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr6:142469800-142487600	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr6:142470000-142481400	Weak transcription	Gastric	stomach
9	chr6:142470000-142484000	Weak transcription	Psoas Muscle	Psoas
10	chr6:142470000-142486400	Weak transcription	Fetal Intestine Small	intestine
11	chr6:142470200-142484000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr6:142470200-142487800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr6:142470200-142488200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr6:142470200-142488200	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr6:142470200-142491800	Weak transcription	Fetal Stomach	stomach
16	chr6:142470200-142493600	Weak transcription	HSMMtube	muscle
17	chr6:142470200-142504000	Weak transcription	Spleen	Spleen
18	chr6:142470400-142487400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr6:142470400-142487600	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr6:142470400-142487600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr6:142470400-142487600	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr6:142470600-142483800	Weak transcription	Fetal Lung	lung
23	chr6:142470600-142486000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr6:142470600-142487600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr6:142470800-142481400	Weak transcription	Brain Hippocampus Middle	brain
26	chr6:142470800-142487600	Weak transcription	Fetal Intestine Large	intestine
27	chr6:142470800-142487800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr6:142471600-142485600	Weak transcription	Brain Germinal Matrix	brain
29	chr6:142472000-142487600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr6:142472400-142487800	Weak transcription	Left Ventricle	heart
31	chr6:142472400-142487800	Weak transcription	Ovary	ovary
32	chr6:142472400-142488200	Weak transcription	Primary B cells from cord blood	blood
33	chr6:142472800-142481400	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr6:142472800-142487000	Weak transcription	Fetal Thymus	thymus
35	chr6:142472800-142487200	Weak transcription	Dnd41	blood
36	chr6:142472800-142487600	Weak transcription	Primary B cells from peripheral blood	blood
37	chr6:142473200-142487800	Weak transcription	Lung	lung
38	chr6:142474200-142487600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr6:142474600-142487000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr6:142474600-142500800	Weak transcription	Brain Cingulate Gyrus	brain
41	chr6:142474800-142506800	Weak transcription	Hela-S3	cervix
42	chr6:142475200-142483400	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr6:142475200-142487800	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr6:142475800-142483800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr6:142476200-142478400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr6:142476600-142478400	Enhancers	Primary T cells from cord blood	blood
47	chr6:142476800-142478400	Enhancers	Liver	Liver
48	chr6:142477000-142478600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr6:142477000-142487800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr6:142477200-142478800	Enhancers	Primary T helper cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links