Variant report

Variant	esv3439861
Chromosome Location	chr6:150386192-150386494
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:150384794..150386662-chr6:150388680..150390331,2	MCF-7	breast:
2	chr6:150345687..150347890-chr6:150385680..150387900,2	MCF-7	breast:
3	chr6:150378922..150380433-chr6:150385877..150388167,2	K562	blood:

Variant related genes	Relation type
ENSG00000131019	chromatin interactions
ENSG00000155918	chromatin interactions

Extended variants
information (count: 19 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2010212	chr6:150386201-150386202	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs144732590	chr6:150386211-150386212	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs66480352	chr6:150386221-150386222	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs73004045	chr6:150386246-150386247	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs549253053	chr6:150386250-150386251	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs56792817	chr6:150386251-150386252	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs538002667	chr6:150386252-150386253	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs945194	chr6:150386262-150386263	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs190673546	chr6:150386279-150386280	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs553090605	chr6:150386286-150386287	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs138602022	chr6:150386316-150386317	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs573541788	chr6:150386345-150386346	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs536294736	chr6:150386437-150386438	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs182888915	chr6:150386448-150386449	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs576409691	chr6:150386449-150386450	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs141604079	chr6:150386456-150386457	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs73004046	chr6:150386466-150386467	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs572231540	chr6:150386477-150386478	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs540354193	chr6:150386491-150386492	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150376000-150388800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:150377800-150389400	Weak transcription	HSMMtube	muscle
3	chr6:150378600-150389400	Weak transcription	Right Atrium	heart
4	chr6:150379600-150389200	Weak transcription	Hela-S3	cervix
5	chr6:150380000-150389600	Weak transcription	Aorta	Aorta
6	chr6:150380200-150389400	Weak transcription	HSMM	muscle
7	chr6:150380600-150389200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr6:150380800-150387800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr6:150380800-150389200	Weak transcription	HMEC	breast
10	chr6:150380800-150389400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr6:150381000-150389200	Weak transcription	Lung	lung
12	chr6:150381400-150387200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:150381400-150389200	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr6:150381600-150389200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr6:150381600-150389200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr6:150381600-150389200	Weak transcription	Right Ventricle	heart
17	chr6:150381600-150389400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr6:150381600-150389400	Weak transcription	Primary hematopoietic stem cells	blood
19	chr6:150381800-150386800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr6:150381800-150389200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:150381800-150389200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr6:150381800-150389400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr6:150382000-150387000	Weak transcription	Spleen	Spleen
24	chr6:150382000-150389200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr6:150382000-150389200	Weak transcription	Esophagus	oesophagus
26	chr6:150382200-150389200	Weak transcription	Pancreas	Pancrea
27	chr6:150382400-150386200	Weak transcription	NHEK	skin
28	chr6:150382600-150389400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr6:150382800-150389400	Weak transcription	NH-A	brain
30	chr6:150383000-150389200	Weak transcription	NHLF	lung
31	chr6:150383200-150389400	Weak transcription	Fetal Brain Female	brain
32	chr6:150383400-150386800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr6:150383400-150387000	Strong transcription	Osteobl	bone
34	chr6:150383800-150389200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr6:150383800-150389400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr6:150384000-150389400	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr6:150384600-150387000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr6:150384600-150387000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr6:150384600-150387000	Strong transcription	Gastric	stomach
40	chr6:150384600-150387200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr6:150384600-150387200	Strong transcription	Fetal Muscle Leg	muscle
42	chr6:150384600-150387400	Strong transcription	Fetal Stomach	stomach
43	chr6:150384800-150386400	Strong transcription	Fetal Intestine Small	intestine
44	chr6:150384800-150389400	Weak transcription	Fetal Kidney	kidney
45	chr6:150385000-150386600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr6:150385000-150389400	Weak transcription	Fetal Lung	lung
47	chr6:150385200-150387000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr6:150385200-150387000	Strong transcription	Muscle Satellite Cultured Cells	--
49	chr6:150385200-150387000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr6:150385200-150389400	Weak transcription	Ovary	ovary

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