Variant report

Variant	esv3326141
Chromosome Location	chr6:147131185-147138244
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant related genes	Relation type
ENSG00000228283	chromatin interactions

Extended variants
information (count: 403 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:403 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545294693	chr6:147131188-147131189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs191034644	chr6:147131201-147131202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs368199395	chr6:147131222-147131223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201523769	chr6:147131233-147131234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182981182	chr6:147131238-147131239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs148783932	chr6:147131268-147131269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577673275	chr6:147131270-147131271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540178934	chr6:147131303-147131304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs259381	chr6:147131310-147131311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs7773366	chr6:147131335-147131336	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs548897326	chr6:147131339-147131340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562318084	chr6:147131344-147131345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs35414309	chr6:147131388-147131389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531371389	chr6:147131390-147131391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551298677	chr6:147131417-147131418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs139604048	chr6:147131422-147131423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs259380	chr6:147131502-147131503	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs376070683	chr6:147131510-147131511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs259379	chr6:147131528-147131529	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs530081084	chr6:147131535-147131536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs259378	chr6:147131537-147131538	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs367597334	chr6:147131543-147131544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs139723252	chr6:147131604-147131605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567699807	chr6:147131616-147131617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs6923489	chr6:147131646-147131647	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs556869105	chr6:147131660-147131661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576824250	chr6:147131678-147131679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs61479265	chr6:147131722-147131723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs146461306	chr6:147131723-147131724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs397815045	chr6:147131736-147131737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs259377	chr6:147131800-147131801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186571467	chr6:147131805-147131806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368378595	chr6:147131807-147131808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577663844	chr6:147131854-147131855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs259376	chr6:147131880-147131881	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs553333963	chr6:147131900-147131901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs34245446	chr6:147131909-147131910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs34603665	chr6:147131932-147131933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs58661081	chr6:147131947-147131948	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs542234395	chr6:147132077-147132078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs259375	chr6:147132096-147132097	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs536504950	chr6:147132102-147132103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192679915	chr6:147132138-147132139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545186895	chr6:147132179-147132180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs71566459	chr6:147132190-147132191	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs527771419	chr6:147132191-147132192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547604509	chr6:147132193-147132194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs79031895	chr6:147132222-147132223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs79610329	chr6:147132228-147132229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184749775	chr6:147132276-147132277	Weak transcription	n/a	n/a	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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