Variant report

Variant	esv3365433
Chromosome Location	chr6:106848609-106851507
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	chr6:106847263..106848780-chr6:107352061..107354720,2	MCF-7	breast:

Extended variants
information (count: 119 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:119 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553990865	chr6:106848609-106848610	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs80153675	chr6:106848654-106848655	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs76261438	chr6:106848668-106848669	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566733451	chr6:106848675-106848676	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539917519	chr6:106848695-106848696	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs139181726	chr6:106848700-106848701	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs186842114	chr6:106848717-106848718	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544185886	chr6:106848736-106848737	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554799644	chr6:106848754-106848755	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs114467904	chr6:106848757-106848758	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558700419	chr6:106848812-106848813	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs143095775	chr6:106848825-106848826	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559698936	chr6:106848826-106848827	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532123829	chr6:106848840-106848841	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544999754	chr6:106848951-106848952	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190594885	chr6:106848954-106848955	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs183082893	chr6:106848991-106848992	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531887545	chr6:106849000-106849001	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548623001	chr6:106849017-106849018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs73763937	chr6:106849038-106849039	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs527964182	chr6:106849039-106849040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373531869	chr6:106849084-106849085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs75742116	chr6:106849101-106849102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564718277	chr6:106849105-106849106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368333204	chr6:106849138-106849139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187805095	chr6:106849151-106849152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs114692281	chr6:106849157-106849158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569073914	chr6:106849170-106849171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs111584949	chr6:106849212-106849213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs67766893	chr6:106849266-106849267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs398002519	chr6:106849278-106849279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs9386536	chr6:106849279-106849280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs202141709	chr6:106849281-106849282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201013686	chr6:106849284-106849285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs67228058	chr6:106849285-106849286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs63315760	chr6:106849286-106849287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191245499	chr6:106849321-106849322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200998368	chr6:106849446-106849447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554580304	chr6:106849517-106849518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs28552076	chr6:106849527-106849528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540155368	chr6:106849743-106849744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553395054	chr6:106849763-106849764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576391556	chr6:106849876-106849877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs377561056	chr6:106849975-106849976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370979948	chr6:106849978-106849979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374357885	chr6:106849983-106849984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368262031	chr6:106849984-106849985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs370483981	chr6:106849987-106849988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374563257	chr6:106849990-106849991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs367735771	chr6:106849995-106849996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:114)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	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
Autism	22495311	CNVD
Gastric cancer	17908304	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
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Burkitt''s lymphoma	20823134	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Basal cell lymphoma	17170743	CNVD
Prostate cancer	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Developmental delay	21147756	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Autism	17483303	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
abnormal development	18461090	CNVD
Systemic lupus erythematosus	19220326	CNVD
Cancer	17160897	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Acute lymphoblastic leukemia	17229543	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:106834400-106852000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr6:106838400-106850600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr6:106838400-106860400	Weak transcription	NHEK	skin
4	chr6:106840000-106859600	Weak transcription	Pancreas	Pancrea
5	chr6:106840000-106860200	Weak transcription	HMEC	breast
6	chr6:106844600-106851200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr6:106845800-106850600	Weak transcription	Fetal Intestine Small	intestine
8	chr6:106846000-106859000	Weak transcription	Fetal Intestine Large	intestine
9	chr6:106846400-106850600	Weak transcription	Esophagus	oesophagus
10	chr6:106846800-106849000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr6:106849000-106860400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr6:106850600-106851000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr6:106850600-106851000	ZNF genes & repeats	Fetal Intestine Small	intestine
14	chr6:106850600-106851200	Strong transcription	Esophagus	oesophagus
15	chr6:106851000-106851800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr6:106851000-106852600	Weak transcription	Fetal Intestine Small	intestine
17	chr6:106851200-106852600	Weak transcription	Esophagus	oesophagus
18	chr6:106851200-106852800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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