Variant report

Variant	nsv886328
Chromosome Location	chr6:82036764-82120647
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:82061373..82063037-chr6:82072058..82074412,2	MCF-7	breast:
2	chr6:82061373..82063037-chr6:82072058..82074412,2	MCF-7	breast:

Extended variants
information (count: 2788 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:2788 , 50 per page) page: 1 2 3 4 5 6 7 ... 56

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1413720	chr6:82036764-82036765	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs188534027	chr6:82036765-82036766	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs75242089	chr6:82036803-82036804	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs113877073	chr6:82036820-82036821	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs140545531	chr6:82036848-82036849	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs112294073	chr6:82036891-82036892	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs150491490	chr6:82036897-82036898	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs551870401	chr6:82036906-82036907	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs568860994	chr6:82036970-82036971	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs193162691	chr6:82036972-82036973	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs73750379	chr6:82037041-82037042	Flanking Active TSS Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs568218503	chr6:82037044-82037045	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs183983230	chr6:82037053-82037054	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs553473088	chr6:82037087-82037088	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs573361641	chr6:82037089-82037090	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs539153535	chr6:82037097-82037098	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs188760166	chr6:82037127-82037128	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs575636436	chr6:82037195-82037196	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs544539198	chr6:82037239-82037240	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs527253499	chr6:82037243-82037244	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs116629491	chr6:82037246-82037247	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs9352988	chr6:82037264-82037265	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs570401193	chr6:82037277-82037278	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs563947201	chr6:82037278-82037279	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs180740722	chr6:82037350-82037351	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs183920860	chr6:82037361-82037362	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs28753888	chr6:82037375-82037376	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs189386754	chr6:82037450-82037451	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565461387	chr6:82037523-82037524	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs552295150	chr6:82037546-82037547	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182328891	chr6:82037562-82037563	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557167406	chr6:82037563-82037564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531343119	chr6:82037585-82037586	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576883540	chr6:82037773-82037774	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs138314740	chr6:82037795-82037796	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568381767	chr6:82037804-82037805	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534118035	chr6:82037895-82037896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186937450	chr6:82037931-82037932	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375882500	chr6:82037939-82037940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs115912028	chr6:82037940-82037941	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545920500	chr6:82037943-82037944	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs144061825	chr6:82037946-82037947	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557263060	chr6:82037966-82037967	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559020448	chr6:82037994-82037995	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112597633	chr6:82037997-82037998	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569085586	chr6:82038007-82038008	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs76393647	chr6:82038039-82038040	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs138988442	chr6:82038040-82038041	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570949223	chr6:82038054-82038055	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs143161729	chr6:82038070-82038071	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
Ductal carcinoma	22052326	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	20164919	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:82036200-82036800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr6:82036400-82036800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr6:82036600-82037000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr6:82036600-82037400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr6:82036600-82037400	Enhancers	Muscle Satellite Cultured Cells	--
6	chr6:82036600-82037400	Flanking Active TSS	Dnd41	blood
7	chr6:82036600-82037400	Enhancers	HSMMtube	muscle
8	chr6:82036600-82037400	Flanking Active TSS	Osteobl	bone
9	chr6:82036800-82037200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr6:82036800-82037400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr6:82037000-82037200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr6:82037200-82037400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr6:82037200-82038400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:82037400-82037600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr6:82037400-82037600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr6:82037400-82037800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr6:82037400-82038600	Enhancers	Dnd41	blood
18	chr6:82037400-82038600	Enhancers	Osteobl	bone
19	chr6:82037400-82040800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr6:82037600-82037800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr6:82037800-82038000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr6:82038000-82041000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr6:82038400-82041000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr6:82038600-82040800	Weak transcription	Osteobl	bone
25	chr6:82040800-82042000	Enhancers	Muscle Satellite Cultured Cells	--
26	chr6:82040800-82042000	Enhancers	Osteobl	bone
27	chr6:82041000-82041800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr6:82041000-82042000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr6:82041000-82042000	Enhancers	NHDF-Ad	bronchial
30	chr6:82047600-82059000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr6:82050800-82051200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr6:82059000-82060000	Active TSS	H9 Cell Line	embryonic stem cell
33	chr6:82059000-82060200	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr6:82060200-82062200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr6:82062200-82062600	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr6:82062200-82062600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr6:82062200-82063200	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr6:82063000-82063600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr6:82066600-82068400	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr6:82067000-82067200	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr6:82067200-82068600	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr6:82068400-82069400	Enhancers	Stomach Mucosa	stomach
43	chr6:82068600-82069200	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr6:82069000-82069400	Enhancers	Liver	Liver
45	chr6:82071200-82071600	Enhancers	NH-A	brain
46	chr6:82071200-82072600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr6:82071200-82074400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr6:82071600-82072800	Enhancers	Muscle Satellite Cultured Cells	--
49	chr6:82071600-82072800	Enhancers	Osteobl	bone
50	chr6:82073400-82074000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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