Variant report

Variant	nsv481751
Chromosome Location	chr6:162452904-162601122
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	chr3:66689243..66689865-chr6:162514238..162514739,2	MCF-7	breast:
2	chr6:162470841..162473078-chr6:162475586..162477804,2	MCF-7	breast:
3	chr6:162525404..162526979-chr6:162529518..162531928,2	MCF-7	breast:
4	chr6:162500411..162502828-chr6:162504694..162507642,2	K562	blood:
5	chr6:162470841..162473078-chr6:162475586..162477804,2	MCF-7	breast:
6	chr6:162525404..162526979-chr6:162529518..162531928,2	MCF-7	breast:
7	chr6:162553757..162556831-chr6:162558713..162560436,3	K562	blood:
8	chr6:162574333..162576032-chr6:162578404..162580150,2	K562	blood:
9	chr6:162258059..162258779-chr6:162552660..162553528,2	MCF-7	breast:
10	chr6:162436271..162438282-chr6:162512437..162514970,2	K562	blood:
11	chr6:162552000..162556573-chr6:162556763..162561114,5	K562	blood:
12	chr6:162574333..162576032-chr6:162578404..162580150,2	K562	blood:
13	chr6:162500411..162502828-chr6:162504694..162507642,2	K562	blood:
14	chr6:162553757..162556831-chr6:162558713..162560436,3	K562	blood:
15	chr6:162552000..162556573-chr6:162556763..162561114,5	K562	blood:

No data

Extended variants
information (count: 4968 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:4968 , 50 per page) page: 1 2 3 4 5 6 7 ... 100

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568751664	chr6:162452958-162452959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs80264586	chr6:162452959-162452960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554877322	chr6:162452978-162452979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs574667250	chr6:162453069-162453070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181175256	chr6:162453074-162453075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553103345	chr6:162453125-162453126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573330526	chr6:162453139-162453140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545568498	chr6:162453164-162453165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543697616	chr6:162453192-162453193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531154581	chr6:162453197-162453198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548848835	chr6:162453269-162453270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185927589	chr6:162453295-162453296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188755542	chr6:162453327-162453328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376064318	chr6:162453330-162453331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530334825	chr6:162453350-162453351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs182032744	chr6:162453411-162453412	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs566175886	chr6:162453421-162453422	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs367826246	chr6:162453531-162453532	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551886342	chr6:162453561-162453562	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370295940	chr6:162453587-162453588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs530925815	chr6:162453594-162453595	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs144023574	chr6:162453606-162453607	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554484128	chr6:162453650-162453651	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369645715	chr6:162453660-162453661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374130796	chr6:162453672-162453673	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568305167	chr6:162453689-162453690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs150671948	chr6:162453723-162453724	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1105056	chr6:162453739-162453740	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs573318294	chr6:162453791-162453792	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs78399727	chr6:162453797-162453798	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs139830168	chr6:162453799-162453800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs149853712	chr6:162453812-162453813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs4467754	chr6:162453866-162453867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs186224818	chr6:162453871-162453872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs561325651	chr6:162453892-162453893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs145886049	chr6:162453904-162453905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs191171715	chr6:162453935-162453936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs559701825	chr6:162453992-162453993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs376704170	chr6:162453996-162453997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs34744998	chr6:162453998-162453999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs182494899	chr6:162454013-162454014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs113387747	chr6:162454084-162454085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs9458435	chr6:162454085-162454086	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs562211207	chr6:162454090-162454091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs531309438	chr6:162454096-162454097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs571609654	chr6:162454108-162454109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs149006647	chr6:162454109-162454110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs117520592	chr6:162454117-162454118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs79475995	chr6:162454136-162454137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs527415891	chr6:162454138-162454139	Enhancers	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
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
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
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
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	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
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Atherosclerosis	21956041	CNVD
Maculopathy	20981449	CNVD
Retinoblastoma	22278416	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Uveal melanoma	20484589	CNVD
Glioblastoma multiforme	19435819	CNVD
Astrocytoma	16205629	CNVD
Parkinson disease	17160897	CNVD
Cancer	20164920	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	20838587	CNVD
Early-onset parkinson disease	21993715	CNVD
Glioblastoma	18772890	CNVD
Pancreatic cancer	20981101	CNVD
Autism	21360662	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Intellectual disability	22102821	CNVD
Parkinson disease	0	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21720365	CNVD
Bipolar disorder	19114987	CNVD
Parkinson disease	21829596	CNVD
Schizophrenia	23813976	CNVD
Gastric cancer	22315472	CNVD
Autism	19404257	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:435 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:162452800-162453800	Weak transcription	Right Atrium	heart
2	chr6:162453400-162454400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr6:162453400-162454400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr6:162453400-162454400	Enhancers	NHDF-Ad	bronchial
5	chr6:162453600-162454200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr6:162453800-162454200	Enhancers	Right Atrium	heart
7	chr6:162455400-162456000	Enhancers	NHEK	skin
8	chr6:162466800-162467000	Enhancers	Pancreas	Pancrea
9	chr6:162467000-162471800	Weak transcription	Pancreas	Pancrea
10	chr6:162470200-162479400	Weak transcription	Ovary	ovary
11	chr6:162471600-162476600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr6:162471800-162473000	Enhancers	Pancreas	Pancrea
13	chr6:162471800-162476800	Weak transcription	Right Ventricle	heart
14	chr6:162472200-162474800	Weak transcription	Brain Substantia Nigra	brain
15	chr6:162472400-162472600	Enhancers	Fetal Brain Male	brain
16	chr6:162473000-162475000	Weak transcription	Pancreas	Pancrea
17	chr6:162473600-162474400	Enhancers	Fetal Brain Female	brain
18	chr6:162474000-162475200	Enhancers	Liver	Liver
19	chr6:162474000-162478000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr6:162474200-162474400	Enhancers	Left Ventricle	heart
21	chr6:162474200-162474600	Enhancers	Fetal Brain Male	brain
22	chr6:162474400-162479600	Weak transcription	Left Ventricle	heart
23	chr6:162475000-162476000	Enhancers	Pancreas	Pancrea
24	chr6:162475200-162478200	Weak transcription	Liver	Liver
25	chr6:162476000-162476400	Weak transcription	Pancreas	Pancrea
26	chr6:162476200-162477400	Enhancers	A549	lung
27	chr6:162476400-162477600	Enhancers	Right Atrium	heart
28	chr6:162476400-162478200	Enhancers	Pancreas	Pancrea
29	chr6:162476600-162476800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr6:162476600-162476800	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr6:162476600-162477000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr6:162476600-162478200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr6:162476800-162477000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr6:162476800-162477400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr6:162476800-162477400	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr6:162476800-162478200	Enhancers	Right Ventricle	heart
37	chr6:162476800-162478600	Enhancers	Fetal Heart	heart
38	chr6:162477000-162477200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr6:162477000-162477200	Bivalent Enhancer	HepG2	liver
40	chr6:162477000-162477400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
41	chr6:162477000-162477400	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr6:162477000-162478200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr6:162477200-162477600	Enhancers	HepG2	liver
44	chr6:162477200-162477800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr6:162477200-162478200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr6:162477200-162478800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr6:162477400-162477600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr6:162477400-162477800	Enhancers	Placenta Amnion	Placenta Amnion
49	chr6:162477400-162478200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr6:162477400-162478200	Enhancers	HUES6 Cell Line	embryonic stem cell

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