Variant report

Variant	nsv1025966
Chromosome Location	chr6:82409797-82433273
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	chr6:82330805..82333324-chr6:82432561..82435338,2	K562	blood:
2	chr12:75784815..75785542-chr6:82429940..82430440,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000212336	chromatin interactions
ENSG00000180481	chromatin interactions

Extended variants
information (count: 730 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:730 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1144175	chr6:82409797-82409798	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs149120906	chr6:82409846-82409847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs142118636	chr6:82409899-82409900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs559233366	chr6:82409900-82409901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs194878	chr6:82409966-82409967	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs544296120	chr6:82409993-82409994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs560790401	chr6:82410003-82410004	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529784174	chr6:82410083-82410084	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539872567	chr6:82410197-82410198	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559716212	chr6:82410208-82410209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs74777085	chr6:82410237-82410238	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs151168566	chr6:82410255-82410256	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs141782620	chr6:82410272-82410273	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs145538626	chr6:82410299-82410300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551069110	chr6:82410324-82410325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567687455	chr6:82410353-82410354	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545767358	chr6:82410369-82410370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536720861	chr6:82410380-82410381	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11967364	chr6:82410383-82410384	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs566860897	chr6:82410407-82410408	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539348504	chr6:82410410-82410411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559245466	chr6:82410412-82410413	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536508416	chr6:82410502-82410503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575814473	chr6:82410578-82410579	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538092771	chr6:82410588-82410589	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569740201	chr6:82410589-82410590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555125748	chr6:82410605-82410606	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574496410	chr6:82410736-82410737	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539932298	chr6:82410801-82410802	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs13219511	chr6:82410835-82410836	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559727933	chr6:82410860-82410861	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576383031	chr6:82410883-82410884	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs544205787	chr6:82410916-82410917	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545715148	chr6:82410939-82410940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs72897407	chr6:82410943-82410944	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs531617434	chr6:82410971-82410972	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs76677528	chr6:82411008-82411009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs544542765	chr6:82411072-82411073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs185927250	chr6:82411079-82411080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs563893634	chr6:82411118-82411119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs188771496	chr6:82411119-82411120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs530257803	chr6:82411130-82411131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs547073166	chr6:82411146-82411147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs532861739	chr6:82411160-82411161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs10455388	chr6:82411176-82411177	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs75484752	chr6:82411177-82411178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs115988938	chr6:82411206-82411207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs78086256	chr6:82411208-82411209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs142656179	chr6:82411247-82411248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs181201310	chr6:82411256-82411257	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
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

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:82407400-82410200	Weak transcription	Fetal Heart	heart
2	chr6:82407800-82410200	Weak transcription	HSMM	muscle
3	chr6:82407800-82411000	Weak transcription	Osteobl	bone
4	chr6:82408400-82409800	Weak transcription	Hela-S3	cervix
5	chr6:82409800-82411400	Enhancers	Hela-S3	cervix
6	chr6:82410000-82411200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr6:82410200-82410400	Enhancers	Fetal Heart	heart
8	chr6:82410200-82410400	Enhancers	HSMM	muscle
9	chr6:82410200-82411000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr6:82411000-82411400	Enhancers	Osteobl	bone
11	chr6:82413800-82417400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr6:82414600-82417000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr6:82414800-82415200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr6:82414800-82415400	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr6:82414800-82415600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr6:82414800-82415800	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr6:82415000-82415200	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr6:82415000-82415200	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr6:82415200-82417600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr6:82415200-82417600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr6:82415200-82417600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr6:82415400-82417000	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr6:82415600-82417600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr6:82415800-82416000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:82415800-82416000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr6:82415800-82417600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr6:82416000-82416600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr6:82416000-82417000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr6:82416600-82419800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr6:82417000-82417200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr6:82417000-82418800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr6:82417000-82420600	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr6:82417200-82417400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr6:82417400-82418000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr6:82417400-82420400	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr6:82417600-82417800	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr6:82417600-82418000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr6:82417600-82418200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr6:82417600-82418400	Enhancers	H1 Cell Line	embryonic stem cell
40	chr6:82417600-82418400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr6:82417600-82418400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr6:82417600-82418400	Enhancers	HSMM	muscle
43	chr6:82417600-82418600	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr6:82417600-82418600	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr6:82417600-82418600	Enhancers	NH-A	brain
46	chr6:82417600-82418800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr6:82417600-82418800	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr6:82417600-82419000	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr6:82417800-82418600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr6:82418000-82418200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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