Variant report

Variant	nsv886745
Chromosome Location	chr6:145494486-145554124
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:145547168..145549367-chr6:145552158..145554924,2	MCF-7	breast:
2	chr6:145530397..145532118-chr6:145532135..145534427,2	K562	blood:
3	chr6:145353179..145355811-chr6:145521442..145523143,2	K562	blood:
4	chr6:144905902..144906972-chr6:145534873..145536365,4	K562	blood:
5	chr6:145458549..145459292-chr6:145535350..145535961,2	MCF-7	breast:
6	chr6:145547168..145549367-chr6:145552158..145554924,2	MCF-7	breast:
7	chr6:145529055..145531591-chr6:145532169..145534485,2	MCF-7	breast:
8	chr6:145535549..145536107-chr6:145954859..145955499,2	MCF-7	breast:
9	chr6:145529055..145531591-chr6:145532169..145534485,2	MCF-7	breast:
10	chr6:145349488..145350116-chr6:145535389..145536274,2	MCF-7	breast:
11	chr6:145530397..145532118-chr6:145532135..145534427,2	K562	blood:
12	chr6:144906108..144907031-chr6:145535323..145536185,3	MCF-7	breast:
13	chr6:144902620..144903603-chr6:145535345..145536293,3	K562	blood:
14	chr6:145396467..145397056-chr6:145535409..145536250,2	MCF-7	breast:
15	chr6:144902851..144903376-chr6:145535252..145535879,2	MCF-7	breast:

No data

Extended variants
information (count: 1199 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:1199 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573149584	chr6:145496439-145496440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs141680646	chr6:145496483-145496484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183077718	chr6:145496526-145496527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs187410670	chr6:145496576-145496577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs116170909	chr6:145496618-145496619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs572225675	chr6:145496642-145496643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs192712020	chr6:145496666-145496667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs542375226	chr6:145496681-145496682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs184718755	chr6:145496705-145496706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs150523466	chr6:145496735-145496736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs138277015	chr6:145496763-145496764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs369908537	chr6:145496764-145496765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs564473665	chr6:145496770-145496771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs532038376	chr6:145496774-145496775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs375416745	chr6:145496797-145496798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs189527156	chr6:145496807-145496808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs113663328	chr6:145496817-145496818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs143954415	chr6:145496818-145496819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs76980578	chr6:145496864-145496865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs547021968	chr6:145496870-145496871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs192807045	chr6:145496900-145496901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs550036014	chr6:145496910-145496911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs74553436	chr6:145496929-145496930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs538701207	chr6:145496937-145496938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs558118721	chr6:145496938-145496939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs554147813	chr6:145496957-145496958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs147331315	chr6:145496996-145496997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs73560188	chr6:145497017-145497018	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs183579698	chr6:145497107-145497108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs566964859	chr6:145497108-145497109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs543091328	chr6:145497118-145497119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs117977159	chr6:145497119-145497120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs576762574	chr6:145497126-145497127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs112470211	chr6:145497138-145497139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs140998710	chr6:145497170-145497171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs527956978	chr6:145497189-145497190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs528333491	chr6:145497192-145497193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs548387358	chr6:145497193-145497194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs568390872	chr6:145497203-145497204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561445476	chr6:145497204-145497205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs202004091	chr6:145497216-145497217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs9497196	chr6:145497217-145497218	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs144650504	chr6:145497224-145497225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs189390656	chr6:145497233-145497234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532644374	chr6:145497242-145497243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547445036	chr6:145497243-145497244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs367550931	chr6:145497244-145497245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536123538	chr6:145497284-145497285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556698054	chr6:145497288-145497289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181792192	chr6:145497313-145497314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Primary central nervous system lymphoma	21088137	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
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:145496400-145497200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr6:145497200-145497400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr6:145499200-145499800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:145508400-145509200	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr6:145508600-145509000	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr6:145508600-145509000	Enhancers	H9 Cell Line	embryonic stem cell
7	chr6:145508600-145509000	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr6:145508600-145509000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr6:145508600-145509200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr6:145508600-145509200	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr6:145508600-145509200	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr6:145508600-145509600	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr6:145510800-145511200	Enhancers	Fetal Kidney	kidney
14	chr6:145514600-145527400	Weak transcription	Aorta	Aorta
15	chr6:145515200-145515800	Enhancers	Rectal Smooth Muscle	rectum
16	chr6:145515200-145516000	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr6:145516000-145520000	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr6:145520000-145521200	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr6:145520800-145521600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr6:145520800-145521600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr6:145520800-145521600	Enhancers	Hela-S3	cervix
22	chr6:145520800-145521600	Enhancers	NHDF-Ad	bronchial
23	chr6:145521000-145521600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr6:145521000-145521600	Enhancers	Muscle Satellite Cultured Cells	--
25	chr6:145521000-145521600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr6:145521000-145521600	Enhancers	A549	lung
27	chr6:145521200-145525400	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr6:145521600-145522800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr6:145521600-145522800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr6:145521600-145526800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr6:145522800-145523200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr6:145522800-145528400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr6:145523200-145526600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr6:145524000-145526200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr6:145525400-145525800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr6:145525400-145527600	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr6:145525800-145526800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr6:145526200-145526600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr6:145526600-145527400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr6:145526600-145527400	Enhancers	NHDF-Ad	bronchial
41	chr6:145526600-145528400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr6:145526800-145527400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr6:145526800-145527800	Enhancers	Left Ventricle	heart
44	chr6:145526800-145528400	Enhancers	Adipose Nuclei	Adipose
45	chr6:145526800-145528600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr6:145527200-145527400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr6:145527200-145528400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr6:145527200-145528600	Enhancers	Osteobl	bone
49	chr6:145527400-145527800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr6:145527400-145527800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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