Variant report

Variant	esv3366641
Chromosome Location	chr6:81246933-81250331
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	chr6:81244830..81247376-chr6:81252160..81253797,2	MCF-7	breast:
2	chr6:81249220..81251616-chr6:81254290..81256470,2	MCF-7	breast:

Extended variants
information (count: 125 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:125 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576317421	chr6:81246936-81246937	Enhancers Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs1657308	chr6:81246949-81246950	Enhancers Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs555701633	chr6:81246968-81246969	Enhancers Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs572418890	chr6:81246981-81246982	Enhancers Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs540615260	chr6:81246982-81246983	Enhancers Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs9449058	chr6:81247028-81247029	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs577246507	chr6:81247040-81247041	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs371115439	chr6:81247046-81247047	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs562709102	chr6:81247050-81247051	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs9449059	chr6:81247078-81247079	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs9449060	chr6:81247098-81247099	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs9449061	chr6:81247113-81247114	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs550456377	chr6:81247119-81247120	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs9449062	chr6:81247185-81247186	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs146139705	chr6:81247187-81247188	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs539482285	chr6:81247233-81247234	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs549910345	chr6:81247245-81247246	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs569819044	chr6:81247292-81247293	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs535643941	chr6:81247302-81247303	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs184495754	chr6:81247317-81247318	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs565966408	chr6:81247345-81247346	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs534642430	chr6:81247347-81247348	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs554108838	chr6:81247351-81247352	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs577184253	chr6:81247412-81247413	Enhancers Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs148720354	chr6:81247434-81247435	Enhancers Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs569603311	chr6:81247442-81247443	Enhancers Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs28478178	chr6:81247468-81247469	Enhancers Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs556244229	chr6:81247503-81247504	Enhancers Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs190561014	chr6:81247574-81247575	Enhancers Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs113050377	chr6:81247649-81247650	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs561971878	chr6:81247650-81247651	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs561192896	chr6:81247659-81247660	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs527955369	chr6:81247741-81247742	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs541376696	chr6:81247863-81247864	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564069191	chr6:81247869-81247870	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548002648	chr6:81247967-81247968	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs142295496	chr6:81247983-81247984	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs151247696	chr6:81248020-81248021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529033332	chr6:81248031-81248032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533931984	chr6:81248032-81248033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs35736196	chr6:81248040-81248041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs397716973	chr6:81248047-81248048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201698898	chr6:81248048-81248049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs193051410	chr6:81248122-81248123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534887091	chr6:81248153-81248154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs60133974	chr6:81248209-81248210	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs570779492	chr6:81248319-81248320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539439577	chr6:81248396-81248397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs13212000	chr6:81248397-81248398	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs35335209	chr6:81248580-81248581	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:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:81233600-81249600	Weak transcription	HSMM	muscle
2	chr6:81234200-81249600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr6:81245800-81247800	ZNF genes & repeats	HMEC	breast
4	chr6:81246000-81250000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr6:81246600-81247200	Enhancers	Duodenum Smooth Muscle	Duodenum
6	chr6:81246600-81247800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:81246600-81247800	Enhancers	Placenta Amnion	Placenta Amnion
8	chr6:81246800-81247000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr6:81246800-81247800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr6:81247000-81247400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr6:81247000-81247400	Enhancers	Rectal Smooth Muscle	rectum
12	chr6:81247000-81247400	ZNF genes & repeats	NHDF-Ad	bronchial
13	chr6:81247000-81247400	Enhancers	Osteobl	bone
14	chr6:81247200-81248000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr6:81247400-81247600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr6:81247400-81247600	Enhancers	Hela-S3	cervix
17	chr6:81247400-81250000	Weak transcription	Osteobl	bone
18	chr6:81247400-81250200	Weak transcription	NHDF-Ad	bronchial
19	chr6:81247600-81249800	Weak transcription	Hela-S3	cervix
20	chr6:81247600-81250400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr6:81247800-81249600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr6:81247800-81249600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr6:81247800-81249600	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr6:81248000-81249600	Weak transcription	HMEC	breast
25	chr6:81249600-81250200	Enhancers	Muscle Satellite Cultured Cells	--
26	chr6:81249600-81250600	Enhancers	NHEK	skin
27	chr6:81249600-81251000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr6:81249600-81251800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr6:81249600-81252000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr6:81249600-81252000	Enhancers	Placenta Amnion	Placenta Amnion
31	chr6:81249600-81252200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr6:81249600-81252400	Enhancers	HMEC	breast
33	chr6:81249600-81253600	Enhancers	HSMM	muscle
34	chr6:81249800-81252200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr6:81249800-81252200	Enhancers	Hela-S3	cervix
36	chr6:81249800-81252400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr6:81250000-81250200	Enhancers	Osteobl	bone
38	chr6:81250000-81252200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr6:81250200-81250400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
40	chr6:81250200-81250600	Flanking Active TSS	Osteobl	bone
41	chr6:81250200-81251800	Enhancers	NHLF	lung
42	chr6:81250200-81252000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr6:81250200-81252000	Enhancers	NH-A	brain
44	chr6:81250200-81252200	Enhancers	NHDF-Ad	bronchial

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