Variant report

Variant	nsv981345
Chromosome Location	chr6:146880013-146886526
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:146879793..146881818-chr6:146885067..146887501,2	K562	blood:
2	chr6:146879793..146881818-chr6:146885067..146887501,2	K562	blood:
3	chr6:146863242..146865558-chr6:146885955..146888728,2	MCF-7	breast:
4	chr6:146882448..146884845-chr6:146887705..146889805,2	K562	blood:

Variant related genes	Relation type
ENSG00000118508	chromatin interactions

Extended variants
information (count: 233 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:233 , 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	rs61511784	chr6:146880055-146880056	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs145007161	chr6:146880064-146880065	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563804716	chr6:146880067-146880068	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182705310	chr6:146880068-146880069	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113868172	chr6:146880087-146880088	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs17076125	chr6:146880141-146880142	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs188178489	chr6:146880220-146880221	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547048585	chr6:146880236-146880237	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs367872685	chr6:146880293-146880294	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113279901	chr6:146880308-146880309	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369417876	chr6:146880334-146880335	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs66832631	chr6:146880335-146880336	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs386408863	chr6:146880339-146880340	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs10679223	chr6:146880340-146880341	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529828435	chr6:146880348-146880349	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550084744	chr6:146880446-146880447	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs569843849	chr6:146880449-146880450	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539071394	chr6:146880467-146880468	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs199702465	chr6:146880524-146880525	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552609765	chr6:146880531-146880532	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs34321478	chr6:146880536-146880537	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535142108	chr6:146880549-146880550	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184546279	chr6:146880588-146880589	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs77548820	chr6:146880609-146880610	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs7773384	chr6:146880629-146880630	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs557674697	chr6:146880630-146880631	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187517417	chr6:146880655-146880656	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558272774	chr6:146880661-146880662	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs192533184	chr6:146880697-146880698	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376208141	chr6:146880740-146880741	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368142096	chr6:146880743-146880744	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs56167324	chr6:146880744-146880745	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200814003	chr6:146880745-146880746	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs398066352	chr6:146880746-146880747	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs571679651	chr6:146880760-146880761	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184761868	chr6:146880788-146880789	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576627470	chr6:146880864-146880865	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538742191	chr6:146880964-146880965	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560634194	chr6:146881006-146881007	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs529938722	chr6:146881025-146881026	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141328414	chr6:146881040-146881041	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs143349614	chr6:146881066-146881067	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs151266664	chr6:146881110-146881111	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557960789	chr6:146881166-146881167	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537272722	chr6:146881210-146881211	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs34577901	chr6:146881222-146881223	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs140486006	chr6:146881238-146881239	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376701574	chr6:146881263-146881264	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs528475182	chr6:146881314-146881315	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs548737151	chr6:146881373-146881374	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
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
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
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
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
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:146866400-146881800	Weak transcription	Brain Germinal Matrix	brain
2	chr6:146866600-146883800	Weak transcription	Small Intestine	intestine
3	chr6:146866600-146885800	Weak transcription	Pancreas	Pancrea
4	chr6:146867000-146880600	Weak transcription	Right Ventricle	heart
5	chr6:146876400-146883600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr6:146876400-146891400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:146876600-146880600	Weak transcription	Colon Smooth Muscle	Colon
8	chr6:146876600-146880800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr6:146876600-146881000	Weak transcription	HMEC	breast
10	chr6:146876600-146891200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr6:146876800-146880800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr6:146876800-146880800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr6:146876800-146880800	Weak transcription	Adipose Nuclei	Adipose
14	chr6:146876800-146880800	Weak transcription	Colonic Mucosa	Colon
15	chr6:146876800-146880800	Weak transcription	Fetal Intestine Large	intestine
16	chr6:146876800-146880800	Weak transcription	NH-A	brain
17	chr6:146876800-146880800	Weak transcription	NHLF	lung
18	chr6:146876800-146881000	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr6:146876800-146881800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr6:146876800-146881800	Weak transcription	HUVEC	blood vessel
21	chr6:146876800-146882200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr6:146876800-146882200	Weak transcription	Primary hematopoietic stem cells	blood
23	chr6:146876800-146882200	Weak transcription	Liver	Liver
24	chr6:146876800-146883600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr6:146876800-146889000	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr6:146877000-146880800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr6:146877000-146880800	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr6:146877000-146880800	Weak transcription	NHDF-Ad	bronchial
29	chr6:146877000-146881000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr6:146877000-146881400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr6:146877000-146881600	Weak transcription	Osteobl	bone
32	chr6:146877000-146882400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr6:146877000-146882400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr6:146877000-146883000	Weak transcription	HSMM	muscle
35	chr6:146877200-146881400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr6:146877600-146881400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr6:146877600-146881800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr6:146879200-146880400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr6:146879400-146880200	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr6:146879400-146881400	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr6:146879400-146881800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr6:146880000-146880600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr6:146880200-146882200	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr6:146880400-146883800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr6:146880600-146882200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr6:146880800-146881000	Strong transcription	NHDF-Ad	bronchial
47	chr6:146881000-146883600	Weak transcription	NHDF-Ad	bronchial
48	chr6:146881400-146882400	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr6:146881400-146882400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr6:146881400-146882400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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