Variant report

Variant	nsv437968
Chromosome Location	chr6:54651356-54660245
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:54659157..54661825-chr6:54711858..54713372,2	MCF-7	breast:

Extended variants
information (count: 391 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:391 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4715480	chr6:54651356-54651357	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs541322772	chr6:54651386-54651387	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560998796	chr6:54651388-54651389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529710721	chr6:54651389-54651390	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs139960877	chr6:54651402-54651403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374551358	chr6:54651412-54651413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs9395993	chr6:54651434-54651435	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs116531266	chr6:54651458-54651459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542950341	chr6:54651493-54651494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112516140	chr6:54651512-54651513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs147302639	chr6:54651542-54651543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs35557173	chr6:54651570-54651571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs9349732	chr6:54651571-54651572	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs62412581	chr6:54651629-54651630	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs144307607	chr6:54651634-54651635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184785004	chr6:54651660-54651661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534100586	chr6:54651668-54651669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs9475006	chr6:54651694-54651695	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs539507885	chr6:54651750-54651751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs147367363	chr6:54651759-54651760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569670237	chr6:54651859-54651860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535790288	chr6:54651872-54651873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555388011	chr6:54651875-54651876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs76614310	chr6:54651889-54651890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565699352	chr6:54651900-54651901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs9395994	chr6:54651911-54651912	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs186547767	chr6:54651932-54651933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs77277951	chr6:54651962-54651963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs74373119	chr6:54651987-54651988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545262202	chr6:54652004-54652005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546381482	chr6:54652014-54652015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556385876	chr6:54652015-54652016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574197414	chr6:54652016-54652017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs62412582	chr6:54652055-54652056	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs77950967	chr6:54652078-54652079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs527704545	chr6:54652086-54652087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541129903	chr6:54652116-54652117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564611421	chr6:54652141-54652142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533314323	chr6:54652150-54652151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549993898	chr6:54652156-54652157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs114828644	chr6:54652157-54652158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192789570	chr6:54652163-54652164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs184670800	chr6:54652172-54652173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565507066	chr6:54652191-54652192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534620606	chr6:54652210-54652211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs9349733	chr6:54652215-54652216	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs538749746	chr6:54652282-54652283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12661310	chr6:54652305-54652306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536790476	chr6:54652336-54652337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs75026283	chr6:54652385-54652386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:54649000-54652800	Weak transcription	Fetal Lung	lung
2	chr6:54650600-54651400	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr6:54651000-54651400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr6:54651000-54651400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr6:54651400-54652600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr6:54652600-54653200	Enhancers	Placenta Amnion	Placenta Amnion
7	chr6:54652800-54653000	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr6:54652800-54653000	Enhancers	Fetal Lung	lung
9	chr6:54653200-54667800	Weak transcription	Placenta Amnion	Placenta Amnion

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