Variant report

Variant	nsv520489
Chromosome Location	chr6:87497775-87545780
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:87494199..87497258-chr6:87499220..87502214,3	K562	blood:
2	chr6:87494778..87497258-chr6:87499826..87502214,2	K562	blood:
3	chr6:87533978..87535623-chr6:87543693..87545877,2	K562	blood:
4	chr6:87533978..87535623-chr6:87543693..87545877,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CGA-5	chr6:87540309-87542399	NONHSAT113886

Extended variants
information (count: 465 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:465 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371933737	chr6:87525400-87525401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs187650346	chr6:87525434-87525435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs192618632	chr6:87525470-87525471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs573899744	chr6:87525540-87525541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs183018237	chr6:87525559-87525560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs556805645	chr6:87525567-87525568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs2145050	chr6:87525607-87525608	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs188104610	chr6:87525656-87525657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs370746059	chr6:87525657-87525658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs527344794	chr6:87525667-87525668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs542749564	chr6:87525679-87525680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs527242458	chr6:87525709-87525710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs149905914	chr6:87525744-87525745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531527633	chr6:87525762-87525763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549758396	chr6:87525794-87525795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs563922575	chr6:87528788-87528789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs76751322	chr6:87528832-87528833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs572118410	chr6:87528864-87528865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs182627912	chr6:87528911-87528912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs200839447	chr6:87528939-87528940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs563885143	chr6:87528966-87528967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs143028709	chr6:87528981-87528982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs80015409	chr6:87528997-87528998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs567801329	chr6:87529042-87529043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs535192833	chr6:87529066-87529067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs564202815	chr6:87529227-87529228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs147035527	chr6:87529236-87529237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs569037687	chr6:87529249-87529250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs201658291	chr6:87529254-87529255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs75098410	chr6:87529317-87529318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs73493787	chr6:87529348-87529349	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs558024643	chr6:87529350-87529351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs73751743	chr6:87534610-87534611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs372010291	chr6:87534613-87534614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs548871144	chr6:87534650-87534651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs139895751	chr6:87534702-87534703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs530521136	chr6:87534709-87534710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs62439104	chr6:87534745-87534746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs375073357	chr6:87534761-87534762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs570196321	chr6:87534827-87534828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs184020239	chr6:87534828-87534829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs188700422	chr6:87534835-87534836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs369093693	chr6:87534857-87534858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs113183031	chr6:87534905-87534906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs368307276	chr6:87535010-87535011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs557219360	chr6:87535039-87535040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs372225291	chr6:87535080-87535081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs146203597	chr6:87535081-87535082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs373047735	chr6:87535105-87535106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs148406717	chr6:87535128-87535129	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

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
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
Lung adenocarcinoma	21935476	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
craniofacial dysmorphism	21918468	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	22521361	CNVD
abnormal development	18461090	CNVD
Myelodysplastic syndrome	18508791	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	21364760	CNVD
Developmental delay	19490664	CNVD
Schizophrenia	23813976	CNVD
Urothelial cell carcinoma	18451213	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:87525400-87525600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:87525400-87525800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:87525600-87525800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:87528600-87529400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr6:87534600-87536000	Enhancers	Liver	Liver
6	chr6:87534600-87536400	Enhancers	HepG2	liver
7	chr6:87535800-87536000	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr6:87536200-87537600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr6:87536800-87537600	Enhancers	Fetal Intestine Large	intestine
10	chr6:87537600-87538200	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr6:87537800-87538000	Enhancers	Liver	Liver
12	chr6:87538200-87540000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr6:87540000-87540600	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr6:87542200-87543200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr6:87543200-87545400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr6:87545200-87545800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr6:87545200-87545800	Enhancers	Pancreas	Pancrea
18	chr6:87545400-87545600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr6:87545400-87545800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr6:87545600-87546000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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