Variant report

Variant	esv4605
Chromosome Location	chr6:74156069-74156529
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	chr6:74155594..74157506-chr6:74160600..74162735,2	MCF-7	breast:
2	chr6:74153322..74156894-chr6:74159948..74162165,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164430	chromatin interactions

Extended variants
information (count: 32 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs55833644	chr6:74156072-74156073	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs534250794	chr6:74156086-74156087	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs191770095	chr6:74156107-74156108	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs201017129	chr6:74156153-74156154	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs150554010	chr6:74156166-74156167	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs75204178	chr6:74156167-74156168	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs62440615	chr6:74156171-74156172	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs6900758	chr6:74156189-74156190	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs6900766	chr6:74156201-74156202	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs6900772	chr6:74156213-74156214	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs62440616	chr6:74156220-74156221	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs62440617	chr6:74156223-74156224	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs62440618	chr6:74156225-74156226	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs62440619	chr6:74156230-74156231	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs62440620	chr6:74156231-74156232	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs6901202	chr6:74156238-74156239	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs6901204	chr6:74156245-74156246	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs62440621	chr6:74156259-74156260	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs62440622	chr6:74156264-74156265	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs62440623	chr6:74156269-74156270	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs62440624	chr6:74156283-74156284	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs552187481	chr6:74156295-74156296	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs369773859	chr6:74156368-74156369	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs183938886	chr6:74156407-74156408	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs533182366	chr6:74156420-74156421	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs528466427	chr6:74156506-74156507	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs189086007	chr6:74156507-74156508	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs140320976	chr6:74156508-74156509	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs180772543	chr6:74156509-74156510	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs373907398	chr6:74156518-74156519	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs535558145	chr6:74156519-74156520	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs553942329	chr6:74156521-74156522	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Lung cancer	18438408	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
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
Prostate cancer	16573809	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	17437010	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Multiple myeloma	16616336	CNVD
Acute myeloid leukemia	16864856	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Developmental delay	21147756	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74123200-74160200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr6:74125400-74160800	Weak transcription	Gastric	stomach
3	chr6:74129000-74160600	Weak transcription	HSMMtube	muscle
4	chr6:74129200-74160200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr6:74129800-74160200	Weak transcription	Brain Hippocampus Middle	brain
6	chr6:74129800-74160200	Weak transcription	NHLF	lung
7	chr6:74130000-74160600	Weak transcription	NHEK	skin
8	chr6:74130200-74159400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr6:74130200-74160800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr6:74130400-74159400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr6:74130400-74160000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr6:74130600-74160400	Weak transcription	Esophagus	oesophagus
13	chr6:74130600-74160800	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr6:74131800-74160200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr6:74132200-74160400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr6:74132200-74160400	Weak transcription	Left Ventricle	heart
17	chr6:74132200-74160800	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr6:74132800-74158400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr6:74133200-74160200	Weak transcription	Stomach Mucosa	stomach
20	chr6:74133400-74159400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr6:74133600-74158600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr6:74135200-74159400	Weak transcription	Colonic Mucosa	Colon
23	chr6:74135200-74160200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr6:74136000-74158200	Weak transcription	Small Intestine	intestine
25	chr6:74136400-74159600	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr6:74138600-74159600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr6:74142400-74160800	Weak transcription	Liver	Liver
28	chr6:74144200-74159200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr6:74144400-74160200	Weak transcription	Placenta	Placenta
30	chr6:74145000-74159400	Weak transcription	Primary T cells from cord blood	blood
31	chr6:74145000-74160800	Weak transcription	Pancreas	Pancrea
32	chr6:74146800-74160600	Weak transcription	Aorta	Aorta
33	chr6:74147800-74156600	Weak transcription	Fetal Intestine Small	intestine
34	chr6:74148000-74160800	Weak transcription	NH-A	brain
35	chr6:74148200-74159400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr6:74148800-74157000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr6:74149800-74160600	Weak transcription	Ovary	ovary
38	chr6:74150200-74159400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr6:74150200-74160400	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr6:74150200-74160600	Weak transcription	Fetal Muscle Trunk	muscle
41	chr6:74150200-74160800	Weak transcription	Fetal Intestine Large	intestine
42	chr6:74151200-74160400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr6:74151400-74159600	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr6:74151600-74159800	Weak transcription	Rectal Smooth Muscle	rectum
45	chr6:74151600-74160200	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr6:74151600-74160400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr6:74151800-74159400	Weak transcription	Lung	lung
48	chr6:74152000-74159000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr6:74152200-74157000	Weak transcription	Spleen	Spleen
50	chr6:74152200-74159400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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