Variant report

Variant	esv3334386
Chromosome Location	chr6:81179933-81183031
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F4	chr6:81182250-81182270	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr6:81181062-81181267	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr6:81181047-81181136	ProgFib	skin:	n/a	n/a
4	POLR2A	chr6:81181150-81181155	ProgFib	skin:	n/a	n/a
5	STAT3	chr6:81182697-81182789	MCF10A-Er-Src	breast:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ELOVL4-3	chr6:81179788-81180145	NONHSAT113735

Variant related genes	Relation type
ENSG00000219361	TF binding region

Extended variants
information (count: 107 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:107 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542221112	chr6:81179951-81179952	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs546180402	chr6:81180030-81180031	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs560025426	chr6:81180088-81180089	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs144164600	chr6:81180100-81180101	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs545238743	chr6:81180135-81180136	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs72898054	chr6:81180154-81180155	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs73471500	chr6:81180164-81180165	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs146509688	chr6:81180172-81180173	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs116249675	chr6:81180190-81180191	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs140818415	chr6:81180230-81180231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191245476	chr6:81180250-81180251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs1361553	chr6:81180257-81180258	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs143002182	chr6:81180288-81180289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528659510	chr6:81180293-81180294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs117635121	chr6:81180401-81180402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs114531942	chr6:81180411-81180412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182355944	chr6:81180430-81180431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs199505232	chr6:81180445-81180446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188600113	chr6:81180448-81180449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs75024173	chr6:81180449-81180450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552686503	chr6:81180453-81180454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs73471501	chr6:81180489-81180490	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs115537942	chr6:81180502-81180503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs114327168	chr6:81180525-81180526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs75004711	chr6:81180535-81180536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544372653	chr6:81180565-81180566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561460889	chr6:81180566-81180567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565401699	chr6:81180569-81180570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs59085242	chr6:81180573-81180574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs386703081	chr6:81180613-81180614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs73748616	chr6:81180614-81180615	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs193265703	chr6:81180620-81180621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532500710	chr6:81180653-81180654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551708523	chr6:81180735-81180736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532562090	chr6:81180846-81180847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373834312	chr6:81180847-81180848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs4299784	chr6:81180934-81180935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs140236857	chr6:81180985-81180986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550964297	chr6:81181012-81181013	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185043291	chr6:81181061-81181062	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs190332969	chr6:81181151-81181152	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs370559663	chr6:81181169-81181170	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs192288387	chr6:81181178-81181179	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs184115144	chr6:81181188-81181189	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs552987783	chr6:81181277-81181278	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566142749	chr6:81181316-81181317	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538214156	chr6:81181326-81181327	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562855245	chr6:81181344-81181345	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373457715	chr6:81181353-81181354	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558845699	chr6:81181357-81181358	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
Endometrioid adenocarcinoma	16974079	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	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
Prostate cancer	16573809	CNVD
Breast cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Developmental delay	21147756	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Salivary gland tumor	18059337	CNVD
Lung cancer	16773561	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial cell carcinoma	18451213	CNVD
Prostate cancer	16461572	CNVD
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Ductal carcinoma	22052326	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Tetralogy of Fallot	22912587	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:81167600-81181400	Weak transcription	Ovary	ovary
2	chr6:81167600-81184800	Weak transcription	Pancreas	Pancrea
3	chr6:81168200-81187000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr6:81170800-81187200	Weak transcription	HSMM	muscle
5	chr6:81175600-81180000	Weak transcription	Fetal Lung	lung
6	chr6:81178600-81187000	Weak transcription	Fetal Intestine Small	intestine
7	chr6:81179800-81180000	Enhancers	Right Ventricle	heart
8	chr6:81179800-81180000	Enhancers	NHDF-Ad	bronchial
9	chr6:81179800-81180200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr6:81179800-81180200	Enhancers	Brain Substantia Nigra	brain
11	chr6:81179800-81180200	Enhancers	Fetal Muscle Leg	muscle
12	chr6:81179800-81180200	Enhancers	Psoas Muscle	Psoas
13	chr6:81180000-81180200	Enhancers	Fetal Lung	lung
14	chr6:81180000-81185000	Weak transcription	NHDF-Ad	bronchial
15	chr6:81181000-81182800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr6:81182800-81189800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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