Variant report

Variant	nsv1020964
Chromosome Location	chr6:82725168-82737456
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:82724785..82726796-chr6:82728771..82731577,2	K562	blood:
2	chr6:82725024..82725524-chr8:107278617..107279120,2	MCF-7	breast:
3	chr6:82724785..82726796-chr6:82728771..82731577,2	K562	blood:

Extended variants
information (count: 432 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:432 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6902034	chr6:82725168-82725169	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs79955044	chr6:82725223-82725224	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562974503	chr6:82725242-82725243	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183600334	chr6:82725244-82725245	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs138727544	chr6:82725246-82725247	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs532954762	chr6:82725248-82725249	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141910879	chr6:82725253-82725254	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188635339	chr6:82725303-82725304	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540731835	chr6:82725320-82725321	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192755674	chr6:82725352-82725353	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548601317	chr6:82725361-82725362	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576315208	chr6:82725379-82725380	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561629363	chr6:82725384-82725385	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534509150	chr6:82725385-82725386	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs4706918	chr6:82725389-82725390	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
16	rs9350942	chr6:82725412-82725413	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs183912872	chr6:82725413-82725414	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs556263894	chr6:82725419-82725420	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs529468522	chr6:82725467-82725468	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs146340143	chr6:82725475-82725476	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs541476042	chr6:82725522-82725523	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs200801058	chr6:82725540-82725541	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs7741179	chr6:82725586-82725587	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	mRNA abundance
24	rs571673684	chr6:82725589-82725590	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs188210521	chr6:82725592-82725593	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs559612150	chr6:82725619-82725620	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564203705	chr6:82725657-82725658	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533188886	chr6:82725687-82725688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs139588745	chr6:82725720-82725721	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs59956436	chr6:82725743-82725744	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533493492	chr6:82725974-82725975	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs141779866	chr6:82725994-82725995	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs191106849	chr6:82726046-82726047	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs548666554	chr6:82726057-82726058	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs16893744	chr6:82726058-82726059	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs548102026	chr6:82726062-82726063	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs571047390	chr6:82726113-82726114	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs144534698	chr6:82726125-82726126	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs566357367	chr6:82726174-82726175	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs570106119	chr6:82726224-82726225	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556482025	chr6:82726236-82726237	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs56674468	chr6:82726273-82726274	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs535191275	chr6:82726305-82726306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555017597	chr6:82726314-82726315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571737276	chr6:82726316-82726317	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540609713	chr6:82726323-82726324	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs111269828	chr6:82726373-82726374	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549125232	chr6:82726396-82726397	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs568865683	chr6:82726399-82726400	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs148493652	chr6:82726408-82726409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	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
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	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
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
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
Acute lymphoblastic leukemia	21098271	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Salivary gland tumor	18059337	CNVD
Lung cancer	16773561	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial cell carcinoma	18451213	CNVD
Prostate cancer	16461572	CNVD
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD

Chromatin state (count:232 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:82721600-82727600	Enhancers	HUVEC	blood vessel
2	chr6:82722400-82728200	Enhancers	Hela-S3	cervix
3	chr6:82722600-82725400	Enhancers	Aorta	Aorta
4	chr6:82722800-82727600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr6:82722800-82728000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr6:82723000-82727800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:82723000-82728400	Enhancers	HMEC	breast
8	chr6:82723200-82725400	Enhancers	NH-A	brain
9	chr6:82723200-82725800	Enhancers	NHEK	skin
10	chr6:82723200-82726200	Weak transcription	Stomach Smooth Muscle	stomach
11	chr6:82723400-82725200	Enhancers	NHLF	lung
12	chr6:82723400-82725800	Enhancers	Osteobl	bone
13	chr6:82723600-82725600	Enhancers	Ovary	ovary
14	chr6:82723600-82726400	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr6:82723600-82727800	Enhancers	HSMM	muscle
16	chr6:82723800-82726600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr6:82723800-82727000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr6:82724000-82725200	Weak transcription	Liver	Liver
19	chr6:82724000-82726400	Weak transcription	HSMMtube	muscle
20	chr6:82724000-82728000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr6:82724200-82725200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr6:82724200-82727800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr6:82724400-82725400	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr6:82724600-82725600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr6:82724600-82725600	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr6:82724600-82726200	Weak transcription	Right Ventricle	heart
27	chr6:82724800-82725200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr6:82724800-82725200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr6:82724800-82725400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr6:82724800-82726000	Weak transcription	Right Atrium	heart
31	chr6:82724800-82726200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr6:82725000-82725200	Enhancers	NHDF-Ad	bronchial
33	chr6:82725000-82726000	Weak transcription	Adipose Nuclei	Adipose
34	chr6:82725000-82726000	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr6:82725000-82726200	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr6:82725000-82726800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr6:82725000-82726800	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr6:82725000-82727400	Enhancers	HepG2	liver
39	chr6:82725000-82728200	Weak transcription	Psoas Muscle	Psoas
40	chr6:82725200-82725400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr6:82725200-82725400	Flanking Active TSS	NHDF-Ad	bronchial
42	chr6:82725200-82725600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr6:82725200-82726000	Enhancers	Liver	Liver
44	chr6:82725200-82726800	Weak transcription	NHLF	lung
45	chr6:82725200-82731600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr6:82725400-82725800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr6:82725400-82726000	Weak transcription	Aorta	Aorta
48	chr6:82725400-82726800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr6:82725400-82728200	Enhancers	NHDF-Ad	bronchial
50	chr6:82725400-82731800	Weak transcription	NH-A	brain

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