Variant report

Variant	nsv470830
Chromosome Location	chr6:67557245-67628407
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:67620371..67622862-chr6:67622985..67625637,2	K562	blood:
2	chr6:67620371..67622862-chr6:67622985..67625637,2	K562	blood:
3	chr6:67616212..67617756-chr6:67621376..67624095,2	MCF-7	breast:
4	chr6:67616212..67617756-chr6:67621376..67624095,2	MCF-7	breast:

Extended variants
information (count: 874 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:874 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574258924	chr6:67559421-67559422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs535249528	chr6:67559434-67559435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs541228752	chr6:67559444-67559445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs553352718	chr6:67559500-67559501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs560714300	chr6:67559515-67559516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs529958303	chr6:67559654-67559655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs79447401	chr6:67559669-67559670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs192475963	chr6:67559680-67559681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs545416170	chr6:67559701-67559702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs532122295	chr6:67559722-67559723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs12192032	chr6:67559743-67559744	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs4321810	chr6:67559757-67559758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs368059365	chr6:67559770-67559771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs565778330	chr6:67559823-67559824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs369818010	chr6:67559836-67559837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs534387128	chr6:67559841-67559842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs575261930	chr6:67559847-67559848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs565004495	chr6:67559849-67559850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs568650559	chr6:67559851-67559852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs141861879	chr6:67559856-67559857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs373302146	chr6:67559888-67559889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs9345900	chr6:67559927-67559928	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs150611098	chr6:67559941-67559942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs145526157	chr6:67559965-67559966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs199848505	chr6:67559970-67559971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs67871982	chr6:67559971-67559972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs56888539	chr6:67559974-67559975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs75601072	chr6:67559975-67559976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs368599776	chr6:67560002-67560003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs138663971	chr6:67560027-67560028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs553050198	chr6:67560065-67560066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs573301599	chr6:67560093-67560094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs79121070	chr6:67560139-67560140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs74805351	chr6:67560147-67560148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs530635338	chr6:67560157-67560158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs550564320	chr6:67560201-67560202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs9345901	chr6:67560211-67560212	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs149328039	chr6:67560246-67560247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs563237494	chr6:67560342-67560343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs7759246	chr6:67560353-67560354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs552168230	chr6:67560361-67560362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs559060540	chr6:67560382-67560383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs528221512	chr6:67560383-67560384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs530238956	chr6:67564012-67564013	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs543920091	chr6:67564067-67564068	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs562583774	chr6:67564216-67564217	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs73453413	chr6:67564267-67564268	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs377230379	chr6:67564276-67564277	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs192999148	chr6:67564300-67564301	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs185301964	chr6:67564309-67564310	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	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
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Lung cancer	18438408	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
Breast cancer	21364760	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	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
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:67559400-67560200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr6:67560000-67560400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr6:67564000-67564600	Active TSS	Fetal Heart	heart
4	chr6:67564400-67565000	Enhancers	Adipose Nuclei	Adipose
5	chr6:67565000-67570400	Weak transcription	Adipose Nuclei	Adipose
6	chr6:67570400-67571200	Enhancers	Adipose Nuclei	Adipose
7	chr6:67575800-67577000	Enhancers	NH-A	brain
8	chr6:67587000-67588400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr6:67590600-67591200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr6:67590600-67591200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr6:67590600-67591200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
12	chr6:67590800-67591200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr6:67590800-67591200	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
14	chr6:67606200-67607200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr6:67606200-67608000	Enhancers	NHEK	skin
16	chr6:67606400-67608000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr6:67606600-67608200	Enhancers	HMEC	breast
18	chr6:67607200-67608200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr6:67607400-67607800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr6:67607400-67607800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:67607400-67607800	Enhancers	Adipose Nuclei	Adipose
22	chr6:67607400-67608200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
23	chr6:67607600-67608000	Active TSS	Fetal Heart	heart
24	chr6:67607800-67609800	Weak transcription	Adipose Nuclei	Adipose
25	chr6:67609200-67613200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr6:67609400-67609600	Enhancers	NH-A	brain
27	chr6:67610000-67610600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr6:67610200-67610400	Enhancers	Adipose Nuclei	Adipose
29	chr6:67610200-67610400	Enhancers	NH-A	brain
30	chr6:67610200-67610600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr6:67610600-67611600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr6:67611600-67612000	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr6:67611600-67612200	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr6:67611600-67612400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr6:67621600-67622000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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