Variant report

Variant	nsv7918
Chromosome Location	chr6:68494626-68502587
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:68500812..68503276-chr6:68505426..68509268,3	K562	blood:
2	chr6:68496731..68499262-chr6:68502770..68504642,2	K562	blood:
3	chr6:68498733..68500691-chr6:68575961..68578214,2	K562	blood:
4	chr6:68492831..68494635-chr6:68590295..68593150,2	K562	blood:
5	chr6:68500812..68503514-chr6:68505426..68509054,4	K562	blood:
6	chr6:68501174..68502825-chr6:68530814..68533551,2	K562	blood:

Extended variants
information (count: 117 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:117 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552012182	chr6:68500001-68500002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs183147176	chr6:68500023-68500024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs9346069	chr6:68500142-68500143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs114715909	chr6:68500150-68500151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs138156221	chr6:68500161-68500162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs567006088	chr6:68500166-68500167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs113303687	chr6:68500169-68500170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs555860686	chr6:68500192-68500193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs9346070	chr6:68500241-68500242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs575796736	chr6:68500257-68500258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs187929477	chr6:68500310-68500311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562667996	chr6:68500347-68500348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs71536424	chr6:68500382-68500383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs34221730	chr6:68500385-68500386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs558767618	chr6:68500439-68500440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs572293611	chr6:68500444-68500445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs7759661	chr6:68500460-68500461	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs560502109	chr6:68500465-68500466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs574107777	chr6:68500472-68500473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs543111319	chr6:68500505-68500506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs577822254	chr6:68500520-68500521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs192463094	chr6:68500521-68500522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs568107765	chr6:68500535-68500536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs149130921	chr6:68500543-68500544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs143851898	chr6:68500545-68500546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs143199810	chr6:68500549-68500550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs528009276	chr6:68500550-68500551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs377741456	chr6:68500562-68500563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs566292981	chr6:68500587-68500588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs148268186	chr6:68500656-68500657	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs548150021	chr6:68500661-68500662	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs535859520	chr6:68500704-68500705	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs540182231	chr6:68500730-68500731	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs142829255	chr6:68500773-68500774	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs538820948	chr6:68500790-68500791	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs558508318	chr6:68500805-68500806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572285727	chr6:68500818-68500819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534588265	chr6:68500840-68500841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554920465	chr6:68500898-68500899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs61022269	chr6:68500910-68500911	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs543047893	chr6:68500919-68500920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540109867	chr6:68500951-68500952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556691771	chr6:68500964-68500965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs147403622	chr6:68500971-68500972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545567301	chr6:68501035-68501036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565365798	chr6:68501040-68501041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371817605	chr6:68501055-68501056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs527907696	chr6:68501060-68501061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541291432	chr6:68501076-68501077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371961899	chr6:68501104-68501105	Weak transcription	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
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
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:68500000-68500800	Enhancers	Fetal Brain Male	brain
2	chr6:68500600-68500800	ZNF genes & repeats	K562	blood
3	chr6:68500800-68502400	Weak transcription	K562	blood
4	chr6:68502400-68503200	Enhancers	K562	blood

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