Variant report

Variant	esv3445930
Chromosome Location	chr6:147134038-147138289
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant related genes	Relation type
ENSG00000228283	chromatin interactions

Extended variants
information (count: 257 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:257 , 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	rs569166632	chr6:147134044-147134045	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs28722930	chr6:147134071-147134072	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs562006268	chr6:147134119-147134120	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs182971510	chr6:147134123-147134124	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs539195748	chr6:147134157-147134158	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs374313411	chr6:147134163-147134164	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs544475881	chr6:147134199-147134200	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs259371	chr6:147134202-147134203	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs532093466	chr6:147134207-147134208	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs370703905	chr6:147134210-147134211	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs149427244	chr6:147134233-147134234	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs528054985	chr6:147134245-147134246	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs534372527	chr6:147134261-147134262	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs201383400	chr6:147134325-147134326	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs144855824	chr6:147134340-147134341	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs139771772	chr6:147134352-147134353	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs144366766	chr6:147134357-147134358	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs80284270	chr6:147134374-147134375	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs200089389	chr6:147134404-147134405	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs536301350	chr6:147134405-147134406	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs35481695	chr6:147134406-147134407	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs574666589	chr6:147134442-147134443	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs12529705	chr6:147134445-147134446	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs139513998	chr6:147134449-147134450	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs553398528	chr6:147134470-147134471	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs189735483	chr6:147134472-147134473	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs146126173	chr6:147134489-147134490	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs555389113	chr6:147134492-147134493	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs11964643	chr6:147134527-147134528	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs544922282	chr6:147134552-147134553	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs564500575	chr6:147134564-147134565	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs201776461	chr6:147134585-147134586	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs9403817	chr6:147134587-147134588	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs200164048	chr6:147134589-147134590	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs368413974	chr6:147134610-147134611	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs116364583	chr6:147134691-147134692	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs528195312	chr6:147134713-147134714	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs548203214	chr6:147134726-147134727	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs9377027	chr6:147134730-147134731	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs530696986	chr6:147134742-147134743	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs9390425	chr6:147134744-147134745	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs570671069	chr6:147134765-147134766	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs35173557	chr6:147134768-147134769	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs397886013	chr6:147134770-147134771	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs539579973	chr6:147134808-147134809	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs9403818	chr6:147134826-147134827	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs566622958	chr6:147134850-147134851	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs9386169	chr6:147134865-147134866	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs555325497	chr6:147134923-147134924	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs182117345	chr6:147134929-147134930	Weak transcription Enhancers Active TSS	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:37 , 50 per page) page: 1

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

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