Variant report

Variant	nsv981145
Chromosome Location	chr6:54074450-54075445
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2754813	chr6:54074482-54074483	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs141388096	chr6:54074483-54074484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs370075300	chr6:54074505-54074506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs527949305	chr6:54074530-54074531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs553261660	chr6:54074608-54074609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572938236	chr6:54074666-54074667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs35868308	chr6:54074699-54074700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs71303792	chr6:54074706-54074707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545233805	chr6:54074754-54074755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs199973444	chr6:54074802-54074803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564375064	chr6:54074819-54074820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs10214593	chr6:54074862-54074863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs578150480	chr6:54074866-54074867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543801237	chr6:54074912-54074913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563694728	chr6:54074915-54074916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371637208	chr6:54074923-54074924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368113481	chr6:54074935-54074936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs62397394	chr6:54074940-54074941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147363948	chr6:54074942-54074943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372116766	chr6:54074944-54074945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs373258705	chr6:54074945-54074946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs2609946	chr6:54074949-54074950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs67613093	chr6:54074953-54074954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188760402	chr6:54074959-54074960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs199765840	chr6:54074970-54074971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139254516	chr6:54075000-54075001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs529333943	chr6:54075005-54075006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs369400206	chr6:54075022-54075023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs560033547	chr6:54075027-54075028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs201769285	chr6:54075074-54075075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs2792649	chr6:54075125-54075126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs528676033	chr6:54075145-54075146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs551955069	chr6:54075200-54075201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs2792650	chr6:54075346-54075347	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs530538199	chr6:54075440-54075441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
Prostate cancer	18632612	CNVD
Breast cancer	21858162	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
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Osteosarcoma	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
Lung cancer	18438408	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17603634	CNVD
Neurocytoma	17123091	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Neuroblastoma	19686582	CNVD
Neuroblastoma	17289879	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	16912164	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:53998000-54099200	Weak transcription	Psoas Muscle	Psoas
2	chr6:54058800-54101000	Weak transcription	Left Ventricle	heart
3	chr6:54070200-54098800	Weak transcription	Fetal Heart	heart
4	chr6:54070400-54095200	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr6:54072600-54075000	Weak transcription	HepG2	liver
6	chr6:54075000-54075400	Enhancers	HepG2	liver

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