Variant report

Variant	esv3369935
Chromosome Location	chr6:74139251-74139443
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:74139267-74139329	GM10266	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:74138320..74140067-chr6:74147403..74150177,2	K562	blood:

Variant related genes	Relation type
ENSG00000266346	TF binding region

Extended variants
information (count: 46 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552774434	chr6:74139271-74139272	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs371510386	chr6:74139275-74139276	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs311672	chr6:74139277-74139278	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs556577192	chr6:74139282-74139283	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs575488557	chr6:74139284-74139285	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs542937907	chr6:74139285-74139286	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs555113614	chr6:74139286-74139287	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs9350497	chr6:74139287-74139288	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs190248358	chr6:74139305-74139306	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs371281017	chr6:74139311-74139312	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs60944234	chr6:74139313-74139314	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs61299714	chr6:74139316-74139317	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs373816209	chr6:74139317-74139318	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs9343043	chr6:74139320-74139321	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs549022904	chr6:74139321-74139322	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs561269999	chr6:74139322-74139323	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs528248454	chr6:74139323-74139324	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs546816199	chr6:74139324-74139325	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs570998567	chr6:74139325-74139326	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs181574492	chr6:74139332-74139333	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs185857436	chr6:74139338-74139339	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs9446902	chr6:74139345-74139346	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs9351998	chr6:74139346-74139347	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs554945336	chr6:74139347-74139348	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs578147	chr6:74139353-74139354	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs56769862	chr6:74139354-74139355	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559116840	chr6:74139355-74139356	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577365639	chr6:74139356-74139357	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544738782	chr6:74139357-74139358	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376923277	chr6:74139360-74139361	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531940311	chr6:74139361-74139362	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370131117	chr6:74139366-74139367	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs190266847	chr6:74139376-74139377	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs71309313	chr6:74139378-74139379	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs386702671	chr6:74139385-74139386	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs202086230	chr6:74139386-74139387	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368374513	chr6:74139387-74139388	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs75950364	chr6:74139388-74139389	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372392989	chr6:74139409-74139410	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564761783	chr6:74139410-74139411	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532046781	chr6:74139412-74139413	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs186072064	chr6:74139415-74139416	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568642614	chr6:74139424-74139425	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375721618	chr6:74139429-74139430	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs35805510	chr6:74139433-74139434	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs548208596	chr6:74139441-74139442	Weak transcription Strong transcription	n/a	n/a	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:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74119200-74149000	Weak transcription	Fetal Intestine Large	intestine
2	chr6:74123200-74160200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr6:74124400-74139800	Weak transcription	NHDF-Ad	bronchial
4	chr6:74125400-74160800	Weak transcription	Gastric	stomach
5	chr6:74126600-74154200	Weak transcription	Thymus	Thymus
6	chr6:74127400-74155800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr6:74127600-74147000	Weak transcription	HUVEC	blood vessel
8	chr6:74129000-74149200	Weak transcription	Ovary	ovary
9	chr6:74129000-74160600	Weak transcription	HSMMtube	muscle
10	chr6:74129200-74160200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr6:74129800-74160200	Weak transcription	Brain Hippocampus Middle	brain
12	chr6:74129800-74160200	Weak transcription	NHLF	lung
13	chr6:74130000-74139600	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr6:74130000-74160600	Weak transcription	NHEK	skin
15	chr6:74130200-74159400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr6:74130200-74160800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr6:74130400-74150400	Weak transcription	Colon Smooth Muscle	Colon
18	chr6:74130400-74159400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr6:74130400-74160000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr6:74130600-74160400	Weak transcription	Esophagus	oesophagus
21	chr6:74130600-74160800	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr6:74131800-74145200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr6:74131800-74151000	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr6:74131800-74160200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr6:74132000-74143400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr6:74132200-74143600	Weak transcription	Fetal Lung	lung
27	chr6:74132200-74144000	Weak transcription	Aorta	Aorta
28	chr6:74132200-74160400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr6:74132200-74160400	Weak transcription	Left Ventricle	heart
30	chr6:74132200-74160800	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr6:74132400-74143000	Weak transcription	HSMM	muscle
32	chr6:74132600-74144000	Weak transcription	Primary T cells from cord blood	blood
33	chr6:74132600-74149400	Weak transcription	Osteobl	bone
34	chr6:74132800-74142200	Weak transcription	Lung	lung
35	chr6:74132800-74151600	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr6:74132800-74158400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr6:74133000-74151400	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr6:74133200-74160200	Weak transcription	Stomach Mucosa	stomach
39	chr6:74133400-74159400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr6:74133600-74140600	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr6:74133600-74158600	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr6:74133800-74149400	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr6:74134600-74154800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr6:74135200-74159400	Weak transcription	Colonic Mucosa	Colon
45	chr6:74135200-74160200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr6:74135400-74143400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr6:74135600-74143400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr6:74136000-74158200	Weak transcription	Small Intestine	intestine
49	chr6:74136400-74151000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr6:74136400-74159600	Weak transcription	Rectal Mucosa Donor 31	rectum

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