Variant report

Variant	nsv970352
Chromosome Location	chr6:140363091-140366380
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:140362168..140365003-chr6:140377211..140380163,3	MCF-7	breast:
2	chr6:140363202..140365064-chr6:140365355..140367836,2	MCF-7	breast:
3	chr6:140363202..140365064-chr6:140365355..140367836,2	MCF-7	breast:

Extended variants
information (count: 115 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:115 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184900408	chr6:140363104-140363105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs144958837	chr6:140363144-140363145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs188384778	chr6:140363154-140363155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs180794981	chr6:140363157-140363158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs186398364	chr6:140363171-140363172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs561883468	chr6:140363185-140363186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529243941	chr6:140363213-140363214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs564856471	chr6:140363241-140363242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs189725125	chr6:140363252-140363253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs568917011	chr6:140363277-140363278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs533638995	chr6:140363310-140363311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs551807714	chr6:140363320-140363321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs527291361	chr6:140363396-140363397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs547036005	chr6:140363405-140363406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567031399	chr6:140363411-140363412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs114868226	chr6:140363442-140363443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs148972234	chr6:140363524-140363525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs529966445	chr6:140363533-140363534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs568208225	chr6:140363536-140363537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs549536623	chr6:140363546-140363547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs77447476	chr6:140363606-140363607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs556955108	chr6:140363609-140363610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs575329589	chr6:140363644-140363645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs546051127	chr6:140363653-140363654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs557795495	chr6:140363727-140363728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs181740667	chr6:140363733-140363734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs186818921	chr6:140363824-140363825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs561846009	chr6:140363836-140363837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs148152550	chr6:140363842-140363843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs79608693	chr6:140363904-140363905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs190474811	chr6:140363930-140363931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs371913773	chr6:140363954-140363955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs533196939	chr6:140363959-140363960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs552032669	chr6:140363986-140363987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs552396186	chr6:140363993-140363994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs367555112	chr6:140364027-140364028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs566213434	chr6:140364028-140364029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs183452170	chr6:140364038-140364039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs186173101	chr6:140364082-140364083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs535008995	chr6:140364083-140364084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs575924185	chr6:140364160-140364161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs567867489	chr6:140364161-140364162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs535509222	chr6:140364164-140364165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs557116048	chr6:140364187-140364188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs568814033	chr6:140364246-140364247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs555034511	chr6:140364253-140364254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs189850793	chr6:140364312-140364313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs539096297	chr6:140364314-140364315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs144084260	chr6:140364385-140364386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs575162243	chr6:140364399-140364400	Weak transcription Enhancers	n/a	n/a	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
Gastric cancer	17908304	CNVD
lymphocytic leukemia	21291569	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
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
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Follicular lymphoma	18703704	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
Breast cancer	21364760	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute monocytic leukemia	16498392	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
craniofacial dysmorphism	21918468	CNVD

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:140351400-140366600	Weak transcription	Aorta	Aorta
2	chr6:140353600-140365600	Weak transcription	Left Ventricle	heart
3	chr6:140358200-140366600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:140360800-140366400	Enhancers	Muscle Satellite Cultured Cells	--
5	chr6:140361200-140365400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr6:140361200-140365800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr6:140361200-140366800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr6:140361200-140366800	Enhancers	HMEC	breast
9	chr6:140361200-140367000	Enhancers	NHEK	skin
10	chr6:140361600-140363600	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr6:140361600-140365600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr6:140362000-140363200	Weak transcription	NHLF	lung
13	chr6:140362200-140363200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr6:140362200-140363200	Weak transcription	Hela-S3	cervix
15	chr6:140362200-140366400	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr6:140362400-140364000	Weak transcription	NHDF-Ad	bronchial
17	chr6:140362400-140364200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr6:140362400-140364200	Weak transcription	Osteobl	bone
19	chr6:140362400-140364400	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr6:140362400-140365000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr6:140362400-140366200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr6:140362600-140364200	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr6:140362800-140365600	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr6:140363000-140363400	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr6:140363000-140363400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr6:140363000-140364400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr6:140363000-140365000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr6:140363000-140366400	Enhancers	HSMM	muscle
29	chr6:140363200-140363400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr6:140363200-140363400	Enhancers	HSMMtube	muscle
31	chr6:140363200-140363600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr6:140363200-140365600	Enhancers	NHLF	lung
33	chr6:140363200-140366800	Enhancers	Hela-S3	cervix
34	chr6:140363400-140364000	Weak transcription	HSMMtube	muscle
35	chr6:140363400-140370800	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr6:140363400-140370800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr6:140363600-140364400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr6:140363600-140365000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr6:140363600-140365600	Enhancers	A549	lung
40	chr6:140364000-140365600	Enhancers	HSMMtube	muscle
41	chr6:140364000-140367200	Enhancers	NHDF-Ad	bronchial
42	chr6:140364200-140364800	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr6:140364200-140365200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr6:140364200-140365600	Enhancers	NH-A	brain
45	chr6:140364200-140365800	Enhancers	Osteobl	bone
46	chr6:140364200-140366600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr6:140364400-140364800	Enhancers	Small Intestine	intestine
48	chr6:140364400-140365200	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr6:140364400-140365400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr6:140364400-140365600	Enhancers	Fetal Intestine Small	intestine

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