Variant report

Variant	nsv823699
Chromosome Location	chr6:54038268-54047656
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 320 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:320 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6458981	chr6:54038339-54038340	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs572236781	chr6:54038352-54038353	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs144128355	chr6:54038373-54038374	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs148702023	chr6:54038402-54038403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs533674020	chr6:54038428-54038429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs543761897	chr6:54038451-54038452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs563863518	chr6:54038471-54038472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs529477981	chr6:54038472-54038473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs116453393	chr6:54038484-54038485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs571207326	chr6:54038541-54038542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs559466553	chr6:54038622-54038623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528226987	chr6:54038638-54038639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs374869940	chr6:54038664-54038665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs55638634	chr6:54038719-54038720	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs575491591	chr6:54038741-54038742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571160744	chr6:54038758-54038759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537312071	chr6:54038763-54038764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183379224	chr6:54038788-54038789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567428021	chr6:54038845-54038846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574883357	chr6:54038865-54038866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552783392	chr6:54038883-54038884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572198026	chr6:54038901-54038902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534837067	chr6:54038938-54038939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs146229943	chr6:54039026-54039027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs816387	chr6:54039127-54039128	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs544058265	chr6:54039135-54039136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563846669	chr6:54039154-54039155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574412100	chr6:54039172-54039173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373129512	chr6:54039204-54039205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560026421	chr6:54039297-54039298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs11966747	chr6:54039320-54039321	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs187627476	chr6:54039341-54039342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533163987	chr6:54039376-54039377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs78450161	chr6:54039388-54039389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530448389	chr6:54039404-54039405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190947083	chr6:54039436-54039437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568563753	chr6:54039483-54039484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs377357608	chr6:54039492-54039493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183279632	chr6:54039538-54039539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567433983	chr6:54039567-54039568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545261620	chr6:54039588-54039589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536187469	chr6:54039612-54039613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540331334	chr6:54039633-54039634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566333436	chr6:54039677-54039678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534754572	chr6:54039681-54039682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557984537	chr6:54039705-54039706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577940532	chr6:54039708-54039709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187936013	chr6:54039731-54039732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557356022	chr6:54039735-54039736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565177274	chr6:54039763-54039764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:53998000-54099200	Weak transcription	Psoas Muscle	Psoas
2	chr6:54003000-54041400	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr6:54008400-54046800	Weak transcription	Right Ventricle	heart
4	chr6:54022400-54046400	Weak transcription	Left Ventricle	heart
5	chr6:54037000-54040800	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr6:54037200-54038400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr6:54037200-54038400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr6:54037200-54038400	Enhancers	Muscle Satellite Cultured Cells	--
9	chr6:54037200-54038400	Enhancers	Fetal Heart	heart
10	chr6:54037200-54038600	Enhancers	HSMM	muscle
11	chr6:54038000-54038400	Enhancers	NHEK	skin
12	chr6:54038400-54045200	Weak transcription	Fetal Heart	heart
13	chr6:54040800-54043000	Strong transcription	Skeletal Muscle Female	skeletal muscle
14	chr6:54041400-54043000	Strong transcription	Skeletal Muscle Male	skeletal muscle
15	chr6:54043000-54046000	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr6:54043000-54046400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr6:54044400-54045200	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr6:54044400-54045400	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr6:54044600-54045000	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr6:54044600-54045400	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr6:54044600-54045400	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr6:54045000-54046800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr6:54045200-54045800	Enhancers	Fetal Heart	heart
24	chr6:54045400-54048400	Weak transcription	Brain Angular Gyrus	brain
25	chr6:54045800-54069200	Weak transcription	Fetal Heart	heart
26	chr6:54046000-54051600	Strong transcription	Skeletal Muscle Female	skeletal muscle
27	chr6:54046200-54046600	Active TSS	Spleen	Spleen
28	chr6:54046400-54047400	Genic enhancers	Left Ventricle	heart
29	chr6:54046400-54047400	Strong transcription	Skeletal Muscle Male	skeletal muscle
30	chr6:54046800-54047200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr6:54046800-54047200	Enhancers	Right Ventricle	heart
32	chr6:54046800-54047400	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr6:54047200-54069600	Weak transcription	Right Ventricle	heart
34	chr6:54047400-54050600	Weak transcription	Left Ventricle	heart
35	chr6:54047400-54069600	Weak transcription	Skeletal Muscle Male	skeletal muscle

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