Variant report

Variant	esv34305
Chromosome Location	chr6:74571797-74675280
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr6:74564309..74565336-chr6:74608092..74608897,3	MCF-7	breast:
2	chr6:74639600..74641277-chr6:74641826..74644463,2	K562	blood:
3	chr6:74639600..74641277-chr6:74641826..74644463,2	K562	blood:
4	chr6:74565749..74566422-chr6:74608012..74609100,4	MCF-7	breast:
5	chr6:74654318..74655307-chrX:136670826..136671580,2	MCF-7	breast:
6	chr6:74565754..74566717-chr6:74608280..74609006,4	MCF-7	breast:
7	chr6:74448554..74449078-chr6:74608125..74608832,2	MCF-7	breast:
8	chr6:74564379..74565320-chr6:74608025..74608803,2	MCF-7	breast:

No data

Extended variants
information (count: 2399 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:2399 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3012557	chr6:74571797-74571798	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs546382384	chr6:74571806-74571807	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs140708703	chr6:74571821-74571822	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs115014885	chr6:74571893-74571894	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs71555219	chr6:74571945-74571946	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs373377064	chr6:74571946-74571947	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556814819	chr6:74571994-74571995	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145349448	chr6:74572010-74572011	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs562145369	chr6:74572035-74572036	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529248618	chr6:74572087-74572088	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs3012558	chr6:74572088-74572089	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs566641313	chr6:74572092-74572093	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577654922	chr6:74572105-74572106	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533747531	chr6:74572118-74572119	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs149203092	chr6:74572139-74572140	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181593885	chr6:74572209-74572210	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537586087	chr6:74572239-74572240	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555965714	chr6:74572252-74572253	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs574421704	chr6:74572285-74572286	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185623846	chr6:74572291-74572292	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113252625	chr6:74572293-74572294	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs143475898	chr6:74572316-74572317	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572734143	chr6:74572352-74572353	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545221846	chr6:74572394-74572395	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188421428	chr6:74572422-74572423	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558351518	chr6:74572458-74572459	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576692653	chr6:74572492-74572493	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs3005494	chr6:74572493-74572494	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs180946399	chr6:74572528-74572529	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572547566	chr6:74572536-74572537	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs35682381	chr6:74572539-74572540	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs368237274	chr6:74572541-74572542	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs386407562	chr6:74572552-74572553	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs58255846	chr6:74572559-74572560	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs9767430	chr6:74572563-74572564	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs9766406	chr6:74572569-74572570	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529326792	chr6:74572584-74572585	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185120878	chr6:74572600-74572601	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs6925443	chr6:74572644-74572645	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs527552821	chr6:74572685-74572686	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs67845870	chr6:74572740-74572741	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs74811279	chr6:74572744-74572745	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs3005495	chr6:74572803-74572804	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs570341868	chr6:74572826-74572827	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12192907	chr6:74572848-74572849	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs112237938	chr6:74572899-74572900	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs6930164	chr6:74572907-74572908	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs141929534	chr6:74572964-74572965	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs77891295	chr6:74572986-74572987	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs145781808	chr6:74573068-74573069	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Pancreatic cancer	22016467	CNVD

Chromatin state (count:193 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74534400-74580600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr6:74555400-74574400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:74556000-74576000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr6:74556800-74574400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr6:74562000-74577800	Weak transcription	Aorta	Aorta
6	chr6:74564800-74574800	Weak transcription	HUVEC	blood vessel
7	chr6:74565400-74575800	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr6:74565600-74580400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr6:74565800-74571800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:74565800-74582800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr6:74567600-74576000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr6:74567600-74586200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr6:74567800-74576000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr6:74568400-74573800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr6:74568800-74582400	Weak transcription	NHDF-Ad	bronchial
16	chr6:74569800-74576000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr6:74571600-74572200	Strong transcription	HMEC	breast
18	chr6:74571800-74575400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr6:74572200-74580200	Weak transcription	HMEC	breast
20	chr6:74573800-74582600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr6:74575400-74576000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr6:74576000-74576200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr6:74576000-74576200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
24	chr6:74576000-74576200	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr6:74576000-74576400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr6:74576000-74576400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr6:74576000-74576400	Enhancers	GM12878-XiMat	blood
28	chr6:74576200-74576400	Strong transcription	Primary hematopoietic stem cells	blood
29	chr6:74576200-74580200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr6:74576400-74577000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr6:74576400-74581800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr6:74576400-74582200	Weak transcription	Primary hematopoietic stem cells	blood
33	chr6:74580200-74581000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr6:74580200-74581000	Enhancers	HMEC	breast
35	chr6:74580400-74581200	Enhancers	NHEK	skin
36	chr6:74580400-74581400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr6:74580400-74581800	Enhancers	Placenta	Placenta
38	chr6:74580600-74580800	Enhancers	Placenta Amnion	Placenta Amnion
39	chr6:74581000-74581600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr6:74581000-74582800	Weak transcription	HMEC	breast
41	chr6:74581200-74583000	Weak transcription	NHEK	skin
42	chr6:74581600-74582200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr6:74581800-74582800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr6:74582200-74583800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr6:74582400-74583400	Enhancers	NHDF-Ad	bronchial
46	chr6:74582600-74582800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr6:74582600-74583200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr6:74582800-74583200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr6:74582800-74583400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr6:74583200-74583400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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