Variant report

Variant	nsv5337
Chromosome Location	chr6:69575123-69581074
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	chr6:69579177..69581252-chr6:69582969..69585312,2	K562	blood:

Extended variants
information (count: 149 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:149 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549582262	chr6:69575129-69575130	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs11356253	chr6:69575137-69575138	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569574538	chr6:69575176-69575177	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs538109367	chr6:69575194-69575195	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538973	chr6:69575207-69575208	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs571479624	chr6:69575212-69575213	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528341	chr6:69575238-69575239	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs553864375	chr6:69575240-69575241	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs146027605	chr6:69575242-69575243	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs190444502	chr6:69575246-69575247	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560363589	chr6:69575263-69575264	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529105	chr6:69575290-69575291	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs545298290	chr6:69575296-69575297	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs565093605	chr6:69575303-69575304	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572306988	chr6:69575344-69575345	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540847988	chr6:69575367-69575368	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs148261726	chr6:69575369-69575370	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112516173	chr6:69575437-69575438	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs529359413	chr6:69575475-69575476	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549368315	chr6:69575503-69575504	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562693193	chr6:69575552-69575553	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs530187026	chr6:69575560-69575561	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs73747812	chr6:69575574-69575575	ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs542600	chr6:69575610-69575611	ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs74700352	chr6:69575630-69575631	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553117	chr6:69575650-69575651	ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs542737	chr6:69575654-69575655	ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs535923952	chr6:69575663-69575664	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs377600891	chr6:69575680-69575681	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs556148870	chr6:69575717-69575718	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs141349095	chr6:69575727-69575728	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183461002	chr6:69575736-69575737	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs544398	chr6:69575803-69575804	ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs535999304	chr6:69575827-69575828	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs114545617	chr6:69575915-69575916	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556592	chr6:69576000-69576001	ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs11284038	chr6:69576010-69576011	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs200788732	chr6:69576012-69576013	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs199704081	chr6:69576013-69576014	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs542726395	chr6:69576018-69576019	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs562556527	chr6:69576112-69576113	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs534006694	chr6:69576132-69576133	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs150816749	chr6:69576149-69576150	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs551338318	chr6:69576157-69576158	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs76049517	chr6:69576163-69576164	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs114352918	chr6:69576175-69576176	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs117880126	chr6:69576184-69576185	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs79810409	chr6:69576185-69576186	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs142798318	chr6:69576241-69576242	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs549647257	chr6:69576271-69576272	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Prostate cancer	16573809	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
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:69569600-69575400	Weak transcription	Fetal Lung	lung
2	chr6:69574600-69578000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
3	chr6:69574800-69575200	Weak transcription	Fetal Brain Female	brain
4	chr6:69575000-69577800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr6:69575400-69576000	Strong transcription	Fetal Lung	lung
6	chr6:69576000-69576200	ZNF genes & repeats	Fetal Lung	lung
7	chr6:69577000-69577200	ZNF genes & repeats	Brain Germinal Matrix	brain
8	chr6:69577000-69577400	ZNF genes & repeats	Brain Hippocampus Middle	brain
9	chr6:69577000-69577600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
10	chr6:69578600-69579000	Enhancers	Fetal Brain Male	brain

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