Variant report

Variant	esv3527048
Chromosome Location	chr6:150286138-150286508
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	chr6:150285227..150287207-chr6:150324215..150327395,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000218358	chromatin interactions

Extended variants
information (count: 25 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549668444	chr6:150286140-150286141	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs556003911	chr6:150286190-150286191	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs9689021	chr6:150286196-150286197	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs116173007	chr6:150286230-150286231	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs111563198	chr6:150286243-150286244	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs544782977	chr6:150286256-150286257	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs533618661	chr6:150286302-150286303	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs369471665	chr6:150286307-150286308	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs150494751	chr6:150286323-150286324	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs373042655	chr6:150286331-150286332	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs573276557	chr6:150286336-150286337	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs542220097	chr6:150286355-150286356	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs141469473	chr6:150286364-150286365	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs191571973	chr6:150286377-150286378	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs149038618	chr6:150286379-150286380	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs138757679	chr6:150286395-150286396	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs187343270	chr6:150286396-150286397	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs143017608	chr6:150286414-150286415	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs192717032	chr6:150286416-150286417	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs367965669	chr6:150286417-150286418	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs371427201	chr6:150286421-150286422	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs62441829	chr6:150286431-150286432	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs2013575	chr6:150286449-150286450	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs2013574	chr6:150286451-150286452	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs76426188	chr6:150286462-150286463	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	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:158 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150284000-150286600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr6:150284200-150286200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr6:150284200-150286400	Bivalent/Poised TSS	Brain Angular Gyrus	brain
4	chr6:150284200-150286600	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
5	chr6:150284200-150286600	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
6	chr6:150284200-150286600	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
7	chr6:150284200-150286800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
8	chr6:150284200-150286800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
9	chr6:150284200-150286800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr6:150284200-150287000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
11	chr6:150284400-150286200	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
12	chr6:150284400-150286400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr6:150284400-150286400	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
14	chr6:150284400-150286400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
15	chr6:150284400-150286400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
16	chr6:150284400-150286400	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
17	chr6:150284400-150286600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr6:150284400-150286600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
19	chr6:150284400-150286600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
20	chr6:150284400-150286600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr6:150284400-150286600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
22	chr6:150284400-150286600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
23	chr6:150284400-150286600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
24	chr6:150284400-150286600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
25	chr6:150284400-150286600	Flanking Bivalent TSS/Enh	Placenta	Placenta
26	chr6:150284400-150286600	Bivalent/Poised TSS	Psoas Muscle	Psoas
27	chr6:150284400-150286600	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
28	chr6:150284400-150286800	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr6:150284400-150286800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
30	chr6:150284400-150286800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
31	chr6:150284400-150286800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
32	chr6:150284600-150286600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
33	chr6:150284600-150286600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr6:150284600-150286600	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
35	chr6:150284600-150286600	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
36	chr6:150284600-150286800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr6:150284600-150286800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
38	chr6:150284600-150286800	Active TSS	HSMMtube	muscle
39	chr6:150284800-150286400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr6:150284800-150286600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
41	chr6:150284800-150286600	Flanking Bivalent TSS/Enh	Primary T helper memory cells from peripheral blood 2	blood
42	chr6:150284800-150286600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr6:150284800-150286600	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
44	chr6:150284800-150286600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
45	chr6:150284800-150286600	Bivalent/Poised TSS	Left Ventricle	heart
46	chr6:150284800-150286800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
47	chr6:150284800-150286800	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
48	chr6:150285000-150286200	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
49	chr6:150285000-150286200	Flanking Active TSS	Gastric	stomach
50	chr6:150285000-150286400	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood

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