Variant report

Variant	nsv1023058
Chromosome Location	chr6:87387614-87410746
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	chr6:87317696..87319542-chr6:87392510..87394797,2	K562	blood:
2	chr6:86352318..86354176-chr6:87391935..87394056,2	K562	blood:

Variant related genes	Relation type
ENSG00000135316	chromatin interactions

Extended variants
information (count: 657 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:657 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs180756423	chr6:87387614-87387615	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs144222970	chr6:87387618-87387619	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs150709617	chr6:87387632-87387633	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs547128046	chr6:87387710-87387711	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs113778399	chr6:87387733-87387734	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs186645812	chr6:87387749-87387750	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs529732942	chr6:87387759-87387760	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs191038717	chr6:87387800-87387801	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs570616929	chr6:87387829-87387830	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs537887212	chr6:87387866-87387867	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs150061272	chr6:87387868-87387869	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs182004276	chr6:87387890-87387891	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs558383742	chr6:87387895-87387896	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs576636343	chr6:87387907-87387908	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs145375390	chr6:87387919-87387920	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs186545542	chr6:87387920-87387921	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs566570014	chr6:87387945-87387946	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs191824685	chr6:87387969-87387970	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs116532137	chr6:87387975-87387976	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs183542343	chr6:87387977-87387978	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs187834060	chr6:87387978-87387979	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs546525491	chr6:87388001-87388002	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs564732058	chr6:87388026-87388027	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs598958	chr6:87388030-87388031	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs112305885	chr6:87388037-87388038	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs562242390	chr6:87388064-87388065	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs189966778	chr6:87388073-87388074	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs551023914	chr6:87388086-87388087	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs569159096	chr6:87388106-87388107	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs369710954	chr6:87388109-87388110	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs530015942	chr6:87388118-87388119	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs111661831	chr6:87388148-87388149	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs113196346	chr6:87388169-87388170	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs570411173	chr6:87388176-87388177	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs533934	chr6:87388191-87388192	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs552734897	chr6:87388194-87388195	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs113552227	chr6:87388222-87388223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs386407826	chr6:87388223-87388224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs71008832	chr6:87388224-87388225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs574542578	chr6:87388227-87388228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs535220894	chr6:87388243-87388244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs71572725	chr6:87388262-87388263	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs182169505	chr6:87388307-87388308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs597575	chr6:87388385-87388386	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs558537870	chr6:87388407-87388408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs140582678	chr6:87388429-87388430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs188332958	chr6:87388431-87388432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs562163465	chr6:87388433-87388434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs529440900	chr6:87388434-87388435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs117824871	chr6:87388438-87388439	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
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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:87387600-87388200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:87388000-87389800	Enhancers	K562	blood
3	chr6:87388200-87390600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:87389800-87391400	Weak transcription	K562	blood
5	chr6:87390600-87391600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:87391400-87392000	Enhancers	K562	blood
7	chr6:87392000-87393200	Flanking Active TSS	K562	blood
8	chr6:87392200-87393600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr6:87393200-87393600	Enhancers	K562	blood
10	chr6:87393600-87394000	Flanking Active TSS	K562	blood
11	chr6:87394000-87394600	Enhancers	K562	blood
12	chr6:87394600-87394800	Flanking Active TSS	K562	blood
13	chr6:87394600-87396000	Enhancers	Placenta Amnion	Placenta Amnion
14	chr6:87394800-87396600	Enhancers	K562	blood
15	chr6:87396000-87396400	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr6:87398600-87399000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr6:87405800-87406000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr6:87406000-87410200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr6:87409600-87410600	Enhancers	K562	blood
20	chr6:87410200-87412400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links