Variant report

Variant	nsv1021793
Chromosome Location	chr6:82720632-82737456
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:82725024..82725524-chr8:107278617..107279120,2	MCF-7	breast:
2	chr6:82724785..82726796-chr6:82728771..82731577,2	K562	blood:
3	chr6:82724785..82726796-chr6:82728771..82731577,2	K562	blood:
4	chr6:82717022..82718588-chr6:82721247..82723634,2	MCF-7	breast:

Extended variants
information (count: 588 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:588 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376553369	chr6:82720689-82720690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs4470889	chr6:82720699-82720700	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs575115431	chr6:82720706-82720707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200968822	chr6:82720712-82720713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2226120	chr6:82720715-82720716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549228258	chr6:82720828-82720829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs35826760	chr6:82720898-82720899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs76309372	chr6:82721044-82721045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539718504	chr6:82721060-82721061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201331438	chr6:82721086-82721087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573330015	chr6:82721104-82721105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563846723	chr6:82721111-82721112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186785921	chr6:82721113-82721114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs1935417	chr6:82721122-82721123	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs537094619	chr6:82721134-82721135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs79642373	chr6:82721185-82721186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112011808	chr6:82721203-82721204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542958091	chr6:82721207-82721208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs76453333	chr6:82721225-82721226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs62428161	chr6:82721315-82721316	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs192606480	chr6:82721320-82721321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564612011	chr6:82721328-82721329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528646334	chr6:82721365-82721366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs76802173	chr6:82721388-82721389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183320052	chr6:82721418-82721419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs138312399	chr6:82721461-82721462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187577844	chr6:82721477-82721478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs149571726	chr6:82721534-82721535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs75430944	chr6:82721556-82721557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549289880	chr6:82721589-82721590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192845157	chr6:82721599-82721600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs144222273	chr6:82721648-82721649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs148756608	chr6:82721649-82721650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs571764304	chr6:82721781-82721782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs184893556	chr6:82721790-82721791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs556983847	chr6:82721887-82721888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs140845622	chr6:82721911-82721912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs567172564	chr6:82721918-82721919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs1935416	chr6:82721935-82721936	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs553336845	chr6:82721937-82721938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs573167153	chr6:82721942-82721943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs545271600	chr6:82721949-82721950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs558475638	chr6:82721965-82721966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs189407693	chr6:82721975-82721976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs60442230	chr6:82721984-82721985	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs545097430	chr6:82721995-82721996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs142032956	chr6:82722004-82722005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs77325771	chr6:82722005-82722006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs192894918	chr6:82722040-82722041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs551614865	chr6:82722049-82722050	Weak transcription Enhancers	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
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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:281 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:82708200-82722400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr6:82709400-82723000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:82716000-82724400	Weak transcription	Right Atrium	heart
4	chr6:82721600-82721800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr6:82721600-82721800	Enhancers	NHEK	skin
6	chr6:82721600-82727600	Enhancers	HUVEC	blood vessel
7	chr6:82721800-82723200	Weak transcription	NHEK	skin
8	chr6:82721800-82724200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr6:82722000-82723200	Enhancers	Muscle Satellite Cultured Cells	--
10	chr6:82722400-82722600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr6:82722400-82723000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr6:82722400-82724800	Enhancers	NHDF-Ad	bronchial
13	chr6:82722400-82728200	Enhancers	Hela-S3	cervix
14	chr6:82722600-82723000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr6:82722600-82725400	Enhancers	Aorta	Aorta
16	chr6:82722800-82723400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr6:82722800-82723400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr6:82722800-82723800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr6:82722800-82724000	Enhancers	Liver	Liver
20	chr6:82722800-82727600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr6:82722800-82728000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr6:82723000-82723200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr6:82723000-82723200	Enhancers	Stomach Smooth Muscle	stomach
24	chr6:82723000-82724800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr6:82723000-82727800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr6:82723000-82728400	Enhancers	HMEC	breast
27	chr6:82723200-82723600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr6:82723200-82723800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr6:82723200-82725400	Enhancers	NH-A	brain
30	chr6:82723200-82725800	Enhancers	NHEK	skin
31	chr6:82723200-82726200	Weak transcription	Stomach Smooth Muscle	stomach
32	chr6:82723400-82723600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr6:82723400-82723600	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr6:82723400-82723800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr6:82723400-82723800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr6:82723400-82723800	Enhancers	HepG2	liver
37	chr6:82723400-82724000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr6:82723400-82725200	Enhancers	NHLF	lung
39	chr6:82723400-82725800	Enhancers	Osteobl	bone
40	chr6:82723600-82723800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr6:82723600-82724200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr6:82723600-82725000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr6:82723600-82725600	Enhancers	Ovary	ovary
44	chr6:82723600-82726400	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr6:82723600-82727800	Enhancers	HSMM	muscle
46	chr6:82723800-82724000	Enhancers	HSMMtube	muscle
47	chr6:82723800-82724200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr6:82723800-82724200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr6:82723800-82724600	Enhancers	Muscle Satellite Cultured Cells	--
50	chr6:82723800-82725000	Weak transcription	HepG2	liver

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