Variant report

Variant	nsv1019897
Chromosome Location	chr6:81830043-81896664
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	chr21:46338970..46339822-chr6:81843315..81843996,2	MCF-7	breast:

Extended variants
information (count: 838 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:838 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139940988	chr6:81835802-81835803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs564636840	chr6:81835866-81835867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs149718448	chr6:81835918-81835919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs145629830	chr6:81835946-81835947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs185046688	chr6:81835952-81835953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs148892959	chr6:81836052-81836053	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs111374739	chr6:81836076-81836077	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs142519625	chr6:81836089-81836090	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566110023	chr6:81836122-81836123	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs543353458	chr6:81836126-81836127	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs188973641	chr6:81836129-81836130	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs578136718	chr6:81836139-81836140	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs537508351	chr6:81836140-81836141	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs557296404	chr6:81836146-81836147	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs574145387	chr6:81836164-81836165	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs181742072	chr6:81836169-81836170	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs185658316	chr6:81836241-81836242	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs189401628	chr6:81836259-81836260	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs181485755	chr6:81836266-81836267	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs544596204	chr6:81836272-81836273	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs565111776	chr6:81836287-81836288	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs530523590	chr6:81836309-81836310	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs550621432	chr6:81836326-81836327	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs113595403	chr6:81836339-81836340	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs147555742	chr6:81836368-81836369	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs185119013	chr6:81839641-81839642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs572018845	chr6:81839678-81839679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs1373257	chr6:81839682-81839683	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs138828055	chr6:81839706-81839707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs577128869	chr6:81839723-81839724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs190713748	chr6:81839736-81839737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs202029321	chr6:81839741-81839742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs562839049	chr6:81839753-81839754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs530204126	chr6:81839779-81839780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs141947950	chr6:81839818-81839819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs111718847	chr6:81839821-81839822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs562220056	chr6:81839863-81839864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs1822546	chr6:81839879-81839880	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs545734990	chr6:81839931-81839932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs548076728	chr6:81839939-81839940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs570497928	chr6:81839945-81839946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs532767515	chr6:81839946-81839947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs186596014	chr6:81839969-81839970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs569638459	chr6:81840005-81840006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs535492681	chr6:81840078-81840079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs35614514	chr6:81840112-81840113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs192016229	chr6:81840128-81840129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs34274842	chr6:81840151-81840152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs182895837	chr6:81840167-81840168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs534619168	chr6:81840212-81840213	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
Tetralogy of Fallot	22912587	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:81835800-81836000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr6:81835800-81836000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr6:81835800-81836400	Enhancers	NHDF-Ad	bronchial
4	chr6:81836000-81836400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr6:81836000-81836400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr6:81839600-81841400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr6:81840200-81840800	Enhancers	Primary hematopoietic stem cells	blood
8	chr6:81840200-81841400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr6:81840400-81840800	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr6:81840800-81841200	Enhancers	Dnd41	blood
11	chr6:81853600-81855800	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr6:81854000-81854600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr6:81854000-81855200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr6:81855200-81858600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr6:81858600-81859000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr6:81860800-81864400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr6:81874800-81875200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr6:81874800-81876200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr6:81875000-81875200	Enhancers	Osteobl	bone
20	chr6:81875200-81876200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr6:81875400-81876400	Weak transcription	Osteobl	bone
22	chr6:81876200-81876600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr6:81876200-81876800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr6:81876200-81876800	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr6:81876200-81876800	Enhancers	Stomach Smooth Muscle	stomach
26	chr6:81876200-81877200	Enhancers	Dnd41	blood
27	chr6:81876400-81876800	Enhancers	Osteobl	bone
28	chr6:81876600-81877400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr6:81876800-81877000	Enhancers	HSMMtube	muscle
30	chr6:81876800-81878600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr6:81876800-81878800	Weak transcription	Osteobl	bone
32	chr6:81876800-81881400	Weak transcription	Stomach Smooth Muscle	stomach
33	chr6:81876800-81881800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr6:81877000-81877200	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr6:81877400-81878400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr6:81877400-81878600	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr6:81878200-81880000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr6:81878400-81881600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr6:81878600-81879400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr6:81878600-81880000	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr6:81878800-81879000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr6:81878800-81879000	Enhancers	Colon Smooth Muscle	Colon
43	chr6:81878800-81879200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr6:81878800-81879200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr6:81878800-81879200	Enhancers	Muscle Satellite Cultured Cells	--
46	chr6:81878800-81879200	Enhancers	HSMMtube	muscle
47	chr6:81878800-81879200	Active TSS	NHDF-Ad	bronchial
48	chr6:81878800-81879400	Enhancers	Osteobl	bone
49	chr6:81879000-81880200	Weak transcription	Colon Smooth Muscle	Colon
50	chr6:81879200-81881400	Weak transcription	Muscle Satellite Cultured Cells	--

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