Variant report

Variant	esv10874
Chromosome Location	chr6:4476189-4478552
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:4473560..4475868-chr6:4477837..4480497,2	MCF-7	breast:
2	chr6:4476053..4476701-chr6:4489878..4490608,2	MCF-7	breast:
3	chr6:4401718..4402258-chr6:4475763..4476371,2	MCF-7	breast:
4	chr6:4475754..4476701-chr6:4489829..4490378,2	MCF-7	breast:
5	chr6:4475486..4477630-chr6:4774016..4775629,2	MCF-7	breast:

Extended variants
information (count: 98 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9504118	chr6:4476193-4476194	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs911566	chr6:4476202-4476203	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs545346855	chr6:4476211-4476212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576779718	chr6:4476231-4476232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558016395	chr6:4476261-4476262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs148962526	chr6:4476268-4476269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs4959987	chr6:4476274-4476275	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs555885867	chr6:4476297-4476298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs142765996	chr6:4476317-4476318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541412179	chr6:4476330-4476331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs911565	chr6:4476353-4476354	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs577982013	chr6:4476354-4476355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543310993	chr6:4476455-4476456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs182621342	chr6:4476456-4476457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs115319149	chr6:4476475-4476476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs147846904	chr6:4476497-4476498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs60294824	chr6:4476498-4476499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs9504119	chr6:4476531-4476532	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs4246070	chr6:4476555-4476556	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs147671446	chr6:4476588-4476589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532376695	chr6:4476604-4476605	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186207792	chr6:4476650-4476651	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551080211	chr6:4476655-4476656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564687783	chr6:4476666-4476667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530534221	chr6:4476719-4476720	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550206308	chr6:4476747-4476748	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs2021989	chr6:4476761-4476762	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs190693513	chr6:4476779-4476780	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549623472	chr6:4476822-4476823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs116780702	chr6:4476824-4476825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372649452	chr6:4476832-4476833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182883823	chr6:4476842-4476843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558291095	chr6:4476846-4476847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112886374	chr6:4476852-4476853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs147010653	chr6:4476867-4476868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs1265263	chr6:4476893-4476894	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs138238223	chr6:4476936-4476937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548403274	chr6:4476974-4476975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs10555000	chr6:4477002-4477003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559090636	chr6:4477124-4477125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572713286	chr6:4477139-4477140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544659598	chr6:4477159-4477160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565040249	chr6:4477188-4477189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs116710273	chr6:4477199-4477200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550583044	chr6:4477201-4477202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563804638	chr6:4477211-4477212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529580927	chr6:4477243-4477244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372936894	chr6:4477291-4477292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187904630	chr6:4477323-4477324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs536874530	chr6:4477381-4477382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Developmental delay	19490664	CNVD
Cancer	21183584	CNVD
Multiple Epiphyseal Dysplasia	20877625	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Glaucoma	18694899	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Cancer	20164920	CNVD
Colorectal cancer	21297112	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
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
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
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	22495311	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
small cell lung cancer	20016488	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
dysmorphism	22105932	CNVD
psychomotor delay	22105932	CNVD
Ovarian cancer	19193619	CNVD
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4474400-4478600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr6:4474600-4476600	Weak transcription	Fetal Heart	heart
3	chr6:4476600-4476800	Enhancers	Fetal Heart	heart

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