Variant report

Variant	esv3475153
Chromosome Location	chr6:110369588-110371499
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	chr6:110369283..110371139-chr6:110374130..110376200,2	MCF-7	breast:
2	chr6:110042492..110045032-chr6:110370097..110372632,2	MCF-7	breast:

Extended variants
information (count: 75 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145071770	chr6:110369598-110369599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs368257000	chr6:110369631-110369632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs376786241	chr6:110369700-110369701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs58305239	chr6:110369708-110369709	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs536185645	chr6:110369732-110369733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528460152	chr6:110369735-110369736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs4263616	chr6:110369743-110369744	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs566107084	chr6:110369750-110369751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187133293	chr6:110369752-110369753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2169526	chr6:110369820-110369821	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs191619678	chr6:110369847-110369848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs2126497	chr6:110369872-110369873	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs146843520	chr6:110369881-110369882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs573498104	chr6:110369887-110369888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs183060405	chr6:110369888-110369889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs529543358	chr6:110369899-110369900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs549380277	chr6:110369900-110369901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs551103565	chr6:110369901-110369902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs528090361	chr6:110369915-110369916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs544648016	chr6:110369960-110369961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs187428791	chr6:110369981-110369982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs193283202	chr6:110369982-110369983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs550674950	chr6:110370072-110370073	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs543467303	chr6:110370096-110370097	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs570310565	chr6:110370108-110370109	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs143792652	chr6:110370114-110370115	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs77829661	chr6:110370193-110370194	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs566198434	chr6:110370198-110370199	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs535041475	chr6:110370205-110370206	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs148169227	chr6:110370291-110370292	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs551881461	chr6:110370292-110370293	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs141132007	chr6:110370351-110370352	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs2169525	chr6:110370365-110370366	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs2126496	chr6:110370433-110370434	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs112958547	chr6:110370471-110370472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs573510881	chr6:110370485-110370486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs542365372	chr6:110370492-110370493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs2126495	chr6:110370502-110370503	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs566443332	chr6:110370533-110370534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs573018472	chr6:110370537-110370538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs2361493	chr6:110370580-110370581	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs564756311	chr6:110370612-110370613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530515788	chr6:110370625-110370626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs137937008	chr6:110370649-110370650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560928037	chr6:110370658-110370659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529516469	chr6:110370666-110370667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112357724	chr6:110370681-110370682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566247511	chr6:110370685-110370686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs143509313	chr6:110370688-110370689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185506463	chr6:110370696-110370697	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
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
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
low-grade B-cell lymphoma tumor	18367492	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
Mental retardation	17621639	CNVD
Intellectual disability	22102821	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:110366000-110370800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr6:110369800-110370600	Enhancers	Placenta	Placenta
3	chr6:110370000-110370400	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr6:110370800-110371200	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr6:110370800-110371200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr6:110370800-110371600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr6:110370800-110371800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr6:110371200-110371600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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