Variant report

Variant	esv14513
Chromosome Location	chr6:74564769-74614549
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:74448554..74449078-chr6:74608125..74608832,2	MCF-7	breast:
2	chr6:74564592..74565216-chr6:74679361..74679928,2	MCF-7	breast:
3	chr6:74561939..74564263-chr6:74564657..74566867,2	K562	blood:
4	chr6:74565749..74566422-chr6:74608012..74609100,4	MCF-7	breast:
5	chr6:74565749..74566422-chr6:74608012..74609100,4	MCF-7	breast:
6	chr6:74564419..74565369-chr9:17774545..17775065,2	K562	blood:
7	chr6:74564379..74565320-chr6:74608025..74608803,2	MCF-7	breast:
8	chr6:74565754..74566717-chr6:74608280..74609006,4	MCF-7	breast:
9	chr6:74564379..74565320-chr6:74608025..74608803,2	MCF-7	breast:
10	chr6:74564309..74565336-chr6:74608092..74608897,3	MCF-7	breast:
11	chr6:74564800..74565363-chr6:74797356..74797902,2	MCF-7	breast:
12	chr6:74564799..74565392-chr6:74801154..74801695,2	MCF-7	breast:
13	chr6:74448759..74449506-chr6:74564233..74564802,2	MCF-7	breast:
14	chr6:74564309..74565336-chr6:74608092..74608897,3	MCF-7	breast:
15	chr6:74564448..74565500-chr6:75920595..75921574,4	K562	blood:
16	chr6:74565754..74566717-chr6:74608280..74609006,4	MCF-7	breast:
17	chr6:74533678..74534293-chr6:74564360..74564873,2	MCF-7	breast:

No data

Extended variants
information (count: 1468 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:1468 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568562671	chr6:74564773-74564774	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs112754345	chr6:74564794-74564795	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529346498	chr6:74564796-74564797	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549323551	chr6:74564798-74564799	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs144435590	chr6:74564833-74564834	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534063030	chr6:74564879-74564880	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs78913096	chr6:74564889-74564890	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs566053428	chr6:74564909-74564910	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs34918675	chr6:74564933-74564934	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs34657631	chr6:74564959-74564960	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs538897672	chr6:74564960-74564961	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs188344848	chr6:74564987-74564988	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs398110287	chr6:74565129-74565130	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs528960997	chr6:74565130-74565131	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs145768310	chr6:74565134-74565135	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs397749303	chr6:74565140-74565141	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs555883039	chr6:74565145-74565146	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs574157921	chr6:74565156-74565157	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs192535916	chr6:74565212-74565213	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs77885573	chr6:74565226-74565227	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs546447053	chr6:74565232-74565233	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs147229157	chr6:74565289-74565290	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs563939902	chr6:74565320-74565321	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs369372250	chr6:74565368-74565369	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs564604673	chr6:74565398-74565399	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs528713282	chr6:74565400-74565401	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs184510714	chr6:74565411-74565412	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562172976	chr6:74565433-74565434	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565881221	chr6:74565441-74565442	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs114164941	chr6:74565453-74565454	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs145341373	chr6:74565485-74565486	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554225471	chr6:74565501-74565502	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573980619	chr6:74565509-74565510	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559661677	chr6:74565512-74565513	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188107851	chr6:74565561-74565562	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543152688	chr6:74565566-74565567	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570407172	chr6:74565580-74565581	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs140461444	chr6:74565611-74565612	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549521957	chr6:74565622-74565623	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs3012547	chr6:74565645-74565646	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs528943989	chr6:74565654-74565655	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182021142	chr6:74565710-74565711	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs3012548	chr6:74565737-74565738	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs572036082	chr6:74565745-74565746	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs147895203	chr6:74565762-74565763	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs116154822	chr6:74565770-74565771	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576770058	chr6:74565773-74565774	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544032255	chr6:74565797-74565798	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562232483	chr6:74565851-74565852	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574063853	chr6:74565873-74565874	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Endometrioid adenocarcinoma	16974079	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
Chronic lymphocytic leukemia	21546498	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Lung cancer	18438408	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
Malignant fibrous histiocytomas	21085701	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
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	17437010	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Multiple myeloma	16616336	CNVD
Acute myeloid leukemia	16864856	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	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:174 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74526400-74565000	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr6:74534400-74580600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr6:74542400-74566800	Weak transcription	HMEC	breast
4	chr6:74552800-74567600	Weak transcription	NHDF-Ad	bronchial
5	chr6:74554200-74566800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr6:74555000-74565000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr6:74555200-74566800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr6:74555400-74565000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr6:74555400-74574400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr6:74555600-74565000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr6:74555600-74569600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr6:74556000-74576000	Weak transcription	Primary hematopoietic stem cells	blood
13	chr6:74556800-74574400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr6:74562000-74577800	Weak transcription	Aorta	Aorta
15	chr6:74562800-74566800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr6:74563200-74566800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr6:74563800-74565800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr6:74564200-74565000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr6:74564600-74564800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr6:74564800-74565000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr6:74564800-74565000	Enhancers	Liver	Liver
22	chr6:74564800-74565000	Active TSS	NHEK	skin
23	chr6:74564800-74565000	Enhancers	Osteobl	bone
24	chr6:74564800-74565200	Active TSS	Adipose Nuclei	Adipose
25	chr6:74564800-74565200	Active TSS	Monocytes-CD14+_RO01746	blood
26	chr6:74564800-74565600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr6:74564800-74574800	Weak transcription	HUVEC	blood vessel
28	chr6:74565000-74565200	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr6:74565000-74565200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr6:74565000-74565200	Flanking Active TSS	NHEK	skin
31	chr6:74565000-74565400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr6:74565000-74565400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr6:74565000-74565400	Enhancers	Muscle Satellite Cultured Cells	--
34	chr6:74565000-74565400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr6:74565000-74565400	Flanking Active TSS	Liver	Liver
36	chr6:74565000-74565400	Active TSS	Stomach Smooth Muscle	stomach
37	chr6:74565000-74565400	Flanking Active TSS	Osteobl	bone
38	chr6:74565000-74565800	Enhancers	Rectal Smooth Muscle	rectum
39	chr6:74565200-74565400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr6:74565200-74565800	Enhancers	NHEK	skin
41	chr6:74565200-74566200	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr6:74565200-74567800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr6:74565400-74565600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr6:74565400-74565600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr6:74565400-74565600	Enhancers	HSMMtube	muscle
46	chr6:74565400-74565600	Enhancers	Osteobl	bone
47	chr6:74565400-74565800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr6:74565400-74565800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr6:74565400-74565800	Enhancers	Adipose Nuclei	Adipose
50	chr6:74565400-74565800	Enhancers	Liver	Liver

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