Variant report

Variant	esv3388911
Chromosome Location	chr6:147133427-147137859
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:147127210..147129501-chr6:147132757..147135712,3	MCF-7	breast:
2	chr6:147123095..147125988-chr6:147132558..147134645,3	K562	blood:
3	chr6:147105883..147108078-chr6:147132118..147134839,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228283	chromatin interactions

Extended variants
information (count: 265 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:265 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188252433	chr6:147133447-147133448	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs549438525	chr6:147133454-147133455	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs569748939	chr6:147133458-147133459	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs538217163	chr6:147133464-147133465	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs180700090	chr6:147133465-147133466	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs572248184	chr6:147133493-147133494	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs3065963	chr6:147133501-147133502	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs3966662	chr6:147133502-147133503	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs534956467	chr6:147133505-147133506	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs4052679	chr6:147133506-147133507	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs186448035	chr6:147133513-147133514	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs554788397	chr6:147133530-147133531	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs112121661	chr6:147133533-147133534	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs574710558	chr6:147133575-147133576	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs189349210	chr6:147133586-147133587	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs368964166	chr6:147133589-147133590	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs563594608	chr6:147133590-147133591	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs62434400	chr6:147133609-147133610	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs1748441	chr6:147133619-147133620	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs138699208	chr6:147133627-147133628	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs3065967	chr6:147133641-147133642	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs3861404	chr6:147133646-147133647	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs62434401	chr6:147133650-147133651	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs548501717	chr6:147133666-147133667	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs35165150	chr6:147133674-147133675	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs2328760	chr6:147133701-147133702	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs150718807	chr6:147133743-147133744	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs182036474	chr6:147133747-147133748	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs569603704	chr6:147133818-147133819	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs538773170	chr6:147133824-147133825	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs470783	chr6:147133829-147133830	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs115970429	chr6:147133835-147133836	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs186679238	chr6:147133855-147133856	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs137953221	chr6:147133859-147133860	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs575573428	chr6:147133884-147133885	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs191527417	chr6:147133976-147133977	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs537201742	chr6:147133997-147133998	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs114855717	chr6:147134005-147134006	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs372937993	chr6:147134020-147134021	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs553072790	chr6:147134024-147134025	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs115679827	chr6:147134030-147134031	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs569166632	chr6:147134044-147134045	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs28722930	chr6:147134071-147134072	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs562006268	chr6:147134119-147134120	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs182971510	chr6:147134123-147134124	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs539195748	chr6:147134157-147134158	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs374313411	chr6:147134163-147134164	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs544475881	chr6:147134199-147134200	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs259371	chr6:147134202-147134203	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs532093466	chr6:147134207-147134208	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Autism	22495311	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
Melanoma	18172304	CNVD
Cancer	21637783	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
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	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
Breast cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung cancer	18438408	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147125400-147133600	Weak transcription	K562	blood
2	chr6:147129600-147136800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:147130800-147137400	Weak transcription	Placenta	Placenta
4	chr6:147133200-147136200	Enhancers	NH-A	brain
5	chr6:147133400-147136000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr6:147133600-147134200	Enhancers	K562	blood
7	chr6:147133600-147136200	Enhancers	Osteobl	bone
8	chr6:147133800-147134200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr6:147133800-147134200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr6:147133800-147134200	Enhancers	Ovary	ovary
11	chr6:147133800-147134400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr6:147133800-147134400	Active TSS	Hela-S3	cervix
13	chr6:147133800-147135600	Enhancers	Muscle Satellite Cultured Cells	--
14	chr6:147133800-147136000	Enhancers	HSMM	muscle
15	chr6:147134200-147135200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr6:147134200-147135400	Weak transcription	Ovary	ovary
17	chr6:147134200-147140600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr6:147134200-147140600	Weak transcription	K562	blood
19	chr6:147134400-147134600	Flanking Active TSS	Hela-S3	cervix
20	chr6:147134400-147135400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr6:147134400-147136200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr6:147134600-147134800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr6:147134600-147135000	Active TSS	Hela-S3	cervix
24	chr6:147134800-147135200	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr6:147135000-147136200	Enhancers	Hela-S3	cervix
26	chr6:147135200-147135400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr6:147135200-147135600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr6:147135400-147135600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr6:147135400-147135600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr6:147135400-147135800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr6:147135600-147135800	Enhancers	Ovary	ovary
32	chr6:147136000-147141200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr6:147136200-147140400	Weak transcription	Osteobl	bone
34	chr6:147136200-147140600	Weak transcription	NH-A	brain
35	chr6:147136800-147137800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr6:147137400-147137600	Enhancers	Placenta	Placenta
37	chr6:147137400-147137800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr6:147137800-147141400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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