Variant report

Variant	nsv528588
Chromosome Location	chr6:149403469-149409860
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:37)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:37 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:149406954..149409794-chr6:149636560..149638477,3	MCF-7	breast:
2	chr6:149402943..149406251-chr6:149407231..149409997,4	K562	blood:
3	chr6:149403099..149403756-chr6:149777559..149778467,3	K562	blood:
4	chr6:149352485..149353192-chr6:149403141..149403642,2	MCF-7	breast:
5	chr6:149402943..149406251-chr6:149407231..149409997,4	K562	blood:
6	chr6:149351101..149353287-chr6:149403711..149405332,2	MCF-7	breast:
7	chr6:149406617..149408383-chr6:149409345..149411999,2	K562	blood:
8	chr6:149403345..149406276-chr6:149836052..149838549,2	MCF-7	breast:
9	chr6:149403546..149405642-chr6:149411704..149413513,2	MCF-7	breast:
10	chr6:149403173..149404038-chr6:149750454..149751288,2	MCF-7	breast:
11	chr6:149376456..149387248-chr6:149393069..149406749,44	MCF-7	breast:
12	chr6:149393614..149396694-chr6:149401142..149403800,3	K562	blood:
13	chr6:149405339..149407233-chr6:149416159..149418196,2	MCF-7	breast:
14	chr6:149404784..149407716-chr6:149553769..149555747,2	MCF-7	breast:
15	chr6:149408079..149409641-chr6:149527096..149529581,2	K562	blood:
16	chr6:149350099..149351108-chr6:149403086..149404039,4	MCF-7	breast:
17	chr6:149400690..149404463-chr6:149557705..149560765,3	MCF-7	breast:
18	chr6:149404537..149406425-chr6:149483662..149485763,2	K562	blood:
19	chr6:149404330..149406131-chr6:149751650..149753242,2	MCF-7	breast:
20	chr6:149400900..149408936-chr6:149636750..149640736,16	MCF-7	breast:
21	chr6:149398184..149404330-chr6:149748783..149757211,17	MCF-7	breast:
22	chr6:149406617..149408839-chr6:149409602..149411999,2	K562	blood:
23	chr6:149401024..149403693-chr6:149738152..149741655,3	K562	blood:
24	chr6:149404549..149406974-chr6:149465570..149467513,2	MCF-7	breast:
25	chr6:149401028..149403801-chr6:149413849..149415930,2	MCF-7	breast:
26	chr6:149406617..149408839-chr6:149409602..149411999,2	K562	blood:
27	chr6:149393800..149396694-chr6:149401142..149403800,2	K562	blood:
28	chr6:149406617..149408383-chr6:149409345..149411999,2	K562	blood:
29	chr6:149401082..149403539-chr6:149632212..149635956,4	MCF-7	breast:
30	chr6:149409350..149410995-chr6:149644588..149646898,2	K562	blood:
31	chr6:149407215..149409434-chr6:149542169..149544216,2	K562	blood:
32	chr6:149400971..149403372-chr6:149403878..149405547,2	K562	blood:
33	chr6:149358004..149360292-chr6:149400901..149403577,2	MCF-7	breast:
34	chr6:149407753..149410844-chr6:149747576..149751159,3	MCF-7	breast:
35	chr6:149403053..149404232-chr6:149752839..149753842,8	K562	blood:
36	chr6:149403185..149406619-chr6:149636459..149640490,6	MCF-7	breast:
37	chr6:149403286..149404899-chr6:149752639..149753736,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000178199	chromatin interactions
ENSG00000055208	chromatin interactions
ENSG00000252244	chromatin interactions

Extended variants
information (count: 242 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:242 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6903827	chr6:149403469-149403470	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs77316815	chr6:149403479-149403480	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs565084037	chr6:149403498-149403499	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs78169690	chr6:149403545-149403546	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs185437848	chr6:149403620-149403621	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs568094654	chr6:149403626-149403627	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs116493009	chr6:149403642-149403643	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs144362025	chr6:149403651-149403652	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs561931967	chr6:149403655-149403656	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs117855862	chr6:149403707-149403708	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs569444943	chr6:149403751-149403752	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs59290673	chr6:149403764-149403765	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs76282290	chr6:149403772-149403773	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs148757686	chr6:149403818-149403819	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs207467511	chr6:149403853-149403854	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs190689129	chr6:149403874-149403875	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs116006170	chr6:149403887-149403888	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs180711646	chr6:149403942-149403943	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs6909624	chr6:149404049-149404050	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs542326400	chr6:149404051-149404052	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs115454665	chr6:149404116-149404117	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs576184380	chr6:149404139-149404140	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs544917792	chr6:149404184-149404185	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs116128571	chr6:149404202-149404203	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs183628854	chr6:149404219-149404220	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs201690067	chr6:149404254-149404255	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs560494667	chr6:149404299-149404300	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs564842568	chr6:149404301-149404302	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs374186382	chr6:149404304-149404305	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs188531046	chr6:149404308-149404309	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs9498204	chr6:149404346-149404347	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs9399680	chr6:149404408-149404409	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs551720098	chr6:149404425-149404426	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs368448237	chr6:149404492-149404493	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs574808015	chr6:149404551-149404552	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs571886699	chr6:149404593-149404594	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs374300603	chr6:149404627-149404628	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs146322171	chr6:149404687-149404688	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs553315210	chr6:149404731-149404732	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs573309128	chr6:149404797-149404798	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs535893400	chr6:149404807-149404808	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs10499251	chr6:149404836-149404837	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs576093462	chr6:149404852-149404853	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs181324123	chr6:149404865-149404866	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs139539689	chr6:149404927-149404928	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs185805627	chr6:149404941-149404942	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs113346394	chr6:149405004-149405005	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs7772696	chr6:149405027-149405028	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs560478860	chr6:149405053-149405054	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs529300635	chr6:149405078-149405079	Weak transcription Enhancers	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:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149385200-149404000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr6:149387400-149404200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:149395000-149415000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr6:149397400-149403600	Weak transcription	Primary T cells from cord blood	blood
5	chr6:149397600-149403600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr6:149397800-149407600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr6:149398800-149403800	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr6:149399000-149403600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr6:149399200-149415000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr6:149400200-149406000	Enhancers	Dnd41	blood
11	chr6:149400600-149406800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr6:149401400-149403800	Enhancers	GM12878-XiMat	blood
13	chr6:149401400-149404000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr6:149401800-149403600	Weak transcription	Brain Anterior Caudate	brain
15	chr6:149401800-149403800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr6:149402000-149403800	Weak transcription	Brain Hippocampus Middle	brain
17	chr6:149402000-149404200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr6:149402200-149403600	Weak transcription	Brain Substantia Nigra	brain
19	chr6:149402200-149405200	Weak transcription	Fetal Thymus	thymus
20	chr6:149402200-149405200	Weak transcription	Pancreas	Pancrea
21	chr6:149402200-149407000	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr6:149402200-149409000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr6:149402200-149410600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr6:149402200-149414400	Weak transcription	Fetal Kidney	kidney
25	chr6:149402200-149414600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr6:149402200-149415000	Weak transcription	Esophagus	oesophagus
27	chr6:149402400-149403600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr6:149402400-149403600	Weak transcription	Brain Cingulate Gyrus	brain
29	chr6:149402400-149407800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr6:149402400-149409000	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr6:149402400-149416200	Weak transcription	Fetal Heart	heart
32	chr6:149402600-149403600	Weak transcription	Fetal Lung	lung
33	chr6:149402600-149404000	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr6:149402600-149404200	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr6:149402600-149406000	Weak transcription	Aorta	Aorta
36	chr6:149402800-149403600	Weak transcription	Primary hematopoietic stem cells	blood
37	chr6:149402800-149407000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr6:149403000-149403600	Enhancers	Primary B cells from peripheral blood	blood
39	chr6:149403000-149404200	Weak transcription	Rectal Smooth Muscle	rectum
40	chr6:149403000-149407200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr6:149403200-149403800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr6:149403200-149405600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr6:149403200-149406600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
44	chr6:149403200-149407200	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr6:149403200-149407600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr6:149403400-149404200	Enhancers	Colon Smooth Muscle	Colon
47	chr6:149403400-149404600	Enhancers	Primary T cells fromperipheralblood	blood
48	chr6:149403400-149405600	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr6:149403400-149406200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr6:149403400-149406200	Enhancers	Primary T helper cells fromperipheralblood	blood

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