Variant report

Variant	nsv603133
Chromosome Location	chr6:54663453-54665729
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 92 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540088683	chr6:54663525-54663526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs372392930	chr6:54663541-54663542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142312873	chr6:54663561-54663562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs148124532	chr6:54663569-54663570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs67328469	chr6:54663570-54663571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs6149593	chr6:54663572-54663573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375754224	chr6:54663573-54663574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs377481372	chr6:54663574-54663575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370682813	chr6:54663575-54663576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374823194	chr6:54663577-54663578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556586147	chr6:54663585-54663586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201756301	chr6:54663605-54663606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs569987519	chr6:54663624-54663625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs374767216	chr6:54663640-54663641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535477453	chr6:54663642-54663643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185207419	chr6:54663668-54663669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572554457	chr6:54663715-54663716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs117617568	chr6:54663731-54663732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs145430525	chr6:54663735-54663736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556935228	chr6:54663736-54663737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531489350	chr6:54663774-54663775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556027413	chr6:54663805-54663806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189912865	chr6:54663849-54663850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs563435659	chr6:54663858-54663859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs35999476	chr6:54663897-54663898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs398048557	chr6:54663900-54663901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529230908	chr6:54663907-54663908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs149217926	chr6:54663909-54663910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558952891	chr6:54663973-54663974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs35245260	chr6:54663984-54663985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571154198	chr6:54663997-54663998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183220491	chr6:54664036-54664037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs62412597	chr6:54664045-54664046	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs143359508	chr6:54664076-54664077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs78478825	chr6:54664111-54664112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550396532	chr6:54664184-54664185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570242930	chr6:54664193-54664194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536179619	chr6:54664213-54664214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115113061	chr6:54664242-54664243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs115216100	chr6:54664254-54664255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188100878	chr6:54664319-54664320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs369131846	chr6:54664361-54664362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535079551	chr6:54664392-54664393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs77030030	chr6:54664436-54664437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs578084128	chr6:54664472-54664473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs543245681	chr6:54664510-54664511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557157826	chr6:54664526-54664527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs114294339	chr6:54664544-54664545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs73430615	chr6:54664580-54664581	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs558887133	chr6:54664589-54664590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:54653200-54667800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr6:54663000-54667800	Weak transcription	Fetal Intestine Small	intestine
3	chr6:54664800-54665000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr6:54664800-54666600	Active TSS	Skeletal Muscle Male	skeletal muscle
5	chr6:54665200-54666200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr6:54665600-54666800	Active TSS	Skeletal Muscle Female	skeletal muscle

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