Variant report

Variant	nsv603137
Chromosome Location	chr6:54848142-54850370
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 90 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:90 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9382410	chr6:54848142-54848143	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs553815307	chr6:54848149-54848150	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563718120	chr6:54848150-54848151	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143190201	chr6:54848182-54848183	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs369368248	chr6:54848202-54848203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539222880	chr6:54848211-54848212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559200628	chr6:54848212-54848213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs114776149	chr6:54848243-54848244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375564107	chr6:54848271-54848272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs532364171	chr6:54848333-54848334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182979017	chr6:54848342-54848343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs9382411	chr6:54848368-54848369	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs574757660	chr6:54848380-54848381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs9475103	chr6:54848414-54848415	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs559416730	chr6:54848422-54848423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543738857	chr6:54848428-54848429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186298603	chr6:54848460-54848461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs147391438	chr6:54848488-54848489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538863829	chr6:54848523-54848524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545943006	chr6:54848524-54848525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562357404	chr6:54848599-54848600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558254113	chr6:54848689-54848690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs9475104	chr6:54848691-54848692	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs563477719	chr6:54848697-54848698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs115706022	chr6:54848722-54848723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs527269773	chr6:54848797-54848798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs138003898	chr6:54848822-54848823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570483034	chr6:54848911-54848912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569349103	chr6:54848947-54848948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs140896464	chr6:54848948-54848949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568291798	chr6:54849005-54849006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs9370348	chr6:54849019-54849020	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs74353699	chr6:54849036-54849037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143430029	chr6:54849069-54849070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569496367	chr6:54849112-54849113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530853611	chr6:54849115-54849116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs9370349	chr6:54849161-54849162	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs12215464	chr6:54849201-54849202	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs9396013	chr6:54849271-54849272	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs78532957	chr6:54849290-54849291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs34061831	chr6:54849311-54849312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs578154979	chr6:54849322-54849323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577233077	chr6:54849351-54849352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs150496735	chr6:54849372-54849373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs76781790	chr6:54849390-54849391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562670128	chr6:54849397-54849398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs78894576	chr6:54849408-54849409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs74216112	chr6:54849411-54849412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190272054	chr6:54849415-54849416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs76463988	chr6:54849416-54849417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
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
Hodgkin''s lymphoma	17606441	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
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	20164919	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:54847000-54854800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr6:54847000-54856800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:54847600-54848200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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