Variant report

Variant	nsv970300
Chromosome Location	chr6:55595544-55599539
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	chr13:43439479..43440321-chr6:55595343..55595982,2	MCF-7	breast:
2	chr6:55585891..55587904-chr6:55598385..55600180,2	MCF-7	breast:

Extended variants
information (count: 202 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:202 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577541201	chr6:55595570-55595571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs141703141	chr6:55595677-55595678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562980478	chr6:55595686-55595687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs543269202	chr6:55595698-55595699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs578047123	chr6:55595700-55595701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534281349	chr6:55595724-55595725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs150531833	chr6:55595737-55595738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs139477318	chr6:55595745-55595746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs114946665	chr6:55595793-55595794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs527887000	chr6:55595822-55595823	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547833706	chr6:55595831-55595832	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs148740054	chr6:55595836-55595837	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs77641988	chr6:55595838-55595839	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563598367	chr6:55595876-55595877	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570878298	chr6:55595896-55595897	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs141550774	chr6:55595908-55595909	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs115054046	chr6:55595930-55595931	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs146171913	chr6:55595961-55595962	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs139418111	chr6:55595978-55595979	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555709955	chr6:55596014-55596015	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs144124384	chr6:55596027-55596028	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181170814	chr6:55596081-55596082	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557962867	chr6:55596111-55596112	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577652509	chr6:55596129-55596130	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543546903	chr6:55596132-55596133	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545965046	chr6:55596207-55596208	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573692207	chr6:55596208-55596209	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376513707	chr6:55596236-55596237	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573303134	chr6:55596238-55596239	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542952342	chr6:55596256-55596257	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114220029	chr6:55596264-55596265	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562057378	chr6:55596270-55596271	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs527856157	chr6:55596289-55596290	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs72865397	chr6:55596318-55596319	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs6919593	chr6:55596341-55596342	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs75069235	chr6:55596342-55596343	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550344293	chr6:55596359-55596360	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186056765	chr6:55596388-55596389	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529321376	chr6:55596398-55596399	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549270957	chr6:55596416-55596417	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565960225	chr6:55596475-55596476	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534954339	chr6:55596504-55596505	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565441975	chr6:55596513-55596514	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs146500688	chr6:55596533-55596534	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs114868399	chr6:55596537-55596538	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536699019	chr6:55596539-55596540	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556645505	chr6:55596569-55596570	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573263815	chr6:55596570-55596571	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs9396149	chr6:55596578-55596579	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs190420937	chr6:55596579-55596580	Strong 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
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
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	16912164	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21509527	CNVD
lymphocytic leukemia	21291569	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:55594200-55595800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:55595800-55596600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:55596600-55598600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:55598400-55598600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:55598400-55598800	Enhancers	Placenta	Placenta
6	chr6:55598600-55598800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:55598600-55600200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr6:55598800-55599000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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