Variant report

Variant	nsv981195
Chromosome Location	chr6:150381921-150385392
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	chr6:150380000..150382934-chr6:150383185..150385012,2	MCF-7	breast:
3	chr6:150379821..150382555-chr6:150387863..150390602,3	MCF-7	breast:
4	chr6:150384115..150385944-chr6:150388643..150390347,3	MCF-7	breast:
5	chr6:150380000..150382934-chr6:150383185..150385012,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000131019	chromatin interactions

Extended variants
information (count: 153 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:153 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9397137	chr6:150382002-150382003	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs531590122	chr6:150382051-150382052	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs551410087	chr6:150382108-150382109	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs368657730	chr6:150382123-150382124	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs541418321	chr6:150382141-150382142	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs72501733	chr6:150382143-150382144	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs565741201	chr6:150382146-150382147	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs10588767	chr6:150382147-150382148	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs56226185	chr6:150382148-150382149	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs527989133	chr6:150382189-150382190	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs6557277	chr6:150382201-150382202	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs567785785	chr6:150382207-150382208	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs559648774	chr6:150382227-150382228	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs147855035	chr6:150382234-150382235	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs116078101	chr6:150382246-150382247	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs140374099	chr6:150382271-150382272	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs558595538	chr6:150382358-150382359	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs562913520	chr6:150382388-150382389	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs376152695	chr6:150382411-150382412	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs13657	chr6:150382481-150382482	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs183542879	chr6:150382489-150382490	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs13729	chr6:150382493-150382494	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs369161827	chr6:150382531-150382532	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs543644692	chr6:150382553-150382554	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs4869814	chr6:150382573-150382574	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs188479165	chr6:150382584-150382585	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs79023798	chr6:150382589-150382590	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs150358206	chr6:150382593-150382594	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527959337	chr6:150382617-150382618	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs193236208	chr6:150382642-150382643	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570616272	chr6:150382665-150382666	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs6557278	chr6:150382788-150382789	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs55993781	chr6:150382824-150382825	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs552827751	chr6:150382829-150382830	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550399642	chr6:150382897-150382898	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs144668002	chr6:150382905-150382906	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183416462	chr6:150382915-150382916	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs552170956	chr6:150382939-150382940	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565515489	chr6:150382942-150382943	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534645650	chr6:150382978-150382979	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373558934	chr6:150382981-150382982	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568391808	chr6:150382982-150382983	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs73004034	chr6:150382983-150382984	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531872365	chr6:150383006-150383007	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548687349	chr6:150383011-150383012	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566791488	chr6:150383017-150383018	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7769252	chr6:150383035-150383036	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs562107758	chr6:150383038-150383039	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs386707001	chr6:150383050-150383051	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs146172412	chr6:150383051-150383052	Weak transcription Strong transcription	n/a	n/a	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:84 , 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	chr6:150377800-150382000	Weak transcription	NH-A	brain
3	chr6:150377800-150389400	Weak transcription	HSMMtube	muscle
4	chr6:150378600-150389400	Weak transcription	Right Atrium	heart
5	chr6:150378800-150384600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr6:150379000-150382200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr6:150379400-150384600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr6:150379600-150382200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr6:150379600-150382600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr6:150379600-150389200	Weak transcription	Hela-S3	cervix
11	chr6:150379800-150384600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr6:150379800-150384600	Weak transcription	Fetal Muscle Leg	muscle
13	chr6:150380000-150389600	Weak transcription	Aorta	Aorta
14	chr6:150380200-150384800	Weak transcription	Fetal Muscle Trunk	muscle
15	chr6:150380200-150389400	Weak transcription	HSMM	muscle
16	chr6:150380400-150384800	Weak transcription	Fetal Intestine Small	intestine
17	chr6:150380600-150389200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr6:150380800-150383400	Weak transcription	Osteobl	bone
19	chr6:150380800-150384600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr6:150380800-150387800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr6:150380800-150389200	Weak transcription	HMEC	breast
22	chr6:150380800-150389400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr6:150381000-150389200	Weak transcription	Lung	lung
24	chr6:150381200-150382000	Enhancers	Adipose Nuclei	Adipose
25	chr6:150381200-150382000	Enhancers	Spleen	Spleen
26	chr6:150381400-150382000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr6:150381400-150382000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr6:150381400-150382000	Enhancers	Placenta	Placenta
29	chr6:150381400-150387200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr6:150381400-150389200	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr6:150381600-150389200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr6:150381600-150389200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr6:150381600-150389200	Weak transcription	Right Ventricle	heart
34	chr6:150381600-150389400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr6:150381600-150389400	Weak transcription	Primary hematopoietic stem cells	blood
36	chr6:150381800-150382000	Enhancers	Esophagus	oesophagus
37	chr6:150381800-150383800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr6:150381800-150386800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr6:150381800-150389200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr6:150381800-150389200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr6:150381800-150389400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr6:150382000-150382800	Strong transcription	NH-A	brain
43	chr6:150382000-150383400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr6:150382000-150383600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr6:150382000-150387000	Weak transcription	Spleen	Spleen
46	chr6:150382000-150389200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr6:150382000-150389200	Weak transcription	Esophagus	oesophagus
48	chr6:150382200-150382800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr6:150382200-150383800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr6:150382200-150389200	Weak transcription	Pancreas	Pancrea

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