Variant report

Variant	nsv966642
Chromosome Location	chr6:58612711-58617575
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 102 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:102 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573259154	chr6:58614814-58614815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs533862651	chr6:58614835-58614836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs549643942	chr6:58614932-58614933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs567837307	chr6:58614933-58614934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs538573711	chr6:58614963-58614964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs556912390	chr6:58614970-58614971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs578176550	chr6:58615014-58615015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs538658995	chr6:58615074-58615075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs4478436	chr6:58615086-58615087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs4478437	chr6:58615100-58615101	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs148173190	chr6:58615172-58615173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs542711157	chr6:58615197-58615198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs112106070	chr6:58615217-58615218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs183449405	chr6:58615226-58615227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs113182203	chr6:58615312-58615313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs562640290	chr6:58615313-58615314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533210152	chr6:58615330-58615331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545435730	chr6:58615351-58615352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs547224333	chr6:58615362-58615363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs560089663	chr6:58615378-58615379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs527409221	chr6:58615413-58615414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs78363297	chr6:58615415-58615416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs76359496	chr6:58615416-58615417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs531964749	chr6:58615419-58615420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs549945665	chr6:58615504-58615505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs150202271	chr6:58615505-58615506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs1517230	chr6:58615528-58615529	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs187529496	chr6:58615562-58615563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs377022595	chr6:58615588-58615589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs553926890	chr6:58615590-58615591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs565717225	chr6:58615618-58615619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs138864783	chr6:58615624-58615625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs554662573	chr6:58615628-58615629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs191557119	chr6:58615649-58615650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs184770886	chr6:58615672-58615673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs115172976	chr6:58615721-58615722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs577905398	chr6:58615773-58615774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs545266362	chr6:58615822-58615823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs537828260	chr6:58615824-58615825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs559925773	chr6:58615863-58615864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs189555987	chr6:58615867-58615868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs191973303	chr6:58615868-58615869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs141996280	chr6:58615873-58615874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs558075730	chr6:58615957-58615958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs112168029	chr6:58615965-58615966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs540093247	chr6:58616069-58616070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs571811426	chr6:58616094-58616095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs2693071	chr6:58616107-58616108	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs573468103	chr6:58616131-58616132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs548055786	chr6:58616135-58616136	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	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
Chronic lymphocytic leukemia	21546498	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Neuroblastoma	16790693	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
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Non-syndromic sensorineural hearing loss	17431168	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:58614800-58617800	Enhancers	NHEK	skin

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