Variant report

Variant	nsv482009
Chromosome Location	chr6:162448630-162728970
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:28)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:162553757..162556831-chr6:162558713..162560436,3	K562	blood:
2	chr6:162552000..162556573-chr6:162556763..162561114,5	K562	blood:
3	chr6:162613600..162615384-chr6:162617227..162618872,2	K562	blood:
4	chr6:162470841..162473078-chr6:162475586..162477804,2	MCF-7	breast:
5	chr6:162574333..162576032-chr6:162578404..162580150,2	K562	blood:
6	chr6:162258059..162258779-chr6:162552660..162553528,2	MCF-7	breast:
7	chr6:162721411..162723925-chr6:162726328..162729326,2	K562	blood:
8	chr3:66689243..66689865-chr6:162514238..162514739,2	MCF-7	breast:
9	chr6:162671180..162673472-chr6:162808694..162811227,2	K562	blood:
10	chr6:162643217..162645721-chr6:162646719..162648950,2	K562	blood:
11	chr6:162666890..162668464-chr6:162670216..162671922,2	K562	blood:
12	chr6:162643217..162645721-chr6:162646719..162648950,2	K562	blood:
13	chr6:162470841..162473078-chr6:162475586..162477804,2	MCF-7	breast:
14	chr6:162620407..162622935-chr6:162623040..162625617,2	K562	blood:
15	chr6:162661286..162663139-chr6:162673530..162675376,2	K562	blood:
16	chr6:162500411..162502828-chr6:162504694..162507642,2	K562	blood:
17	chr6:162574333..162576032-chr6:162578404..162580150,2	K562	blood:
18	chr6:162620407..162622935-chr6:162623040..162625617,2	K562	blood:
19	chr6:162525404..162526979-chr6:162529518..162531928,2	MCF-7	breast:
20	chr6:162661286..162663139-chr6:162673530..162675376,2	K562	blood:
21	chr6:162525404..162526979-chr6:162529518..162531928,2	MCF-7	breast:
22	chr6:162436271..162438282-chr6:162512437..162514970,2	K562	blood:
23	chr6:162500411..162502828-chr6:162504694..162507642,2	K562	blood:
24	chr6:162553757..162556831-chr6:162558713..162560436,3	K562	blood:
25	chr6:162613600..162615384-chr6:162617227..162618872,2	K562	blood:
26	chr6:162552000..162556573-chr6:162556763..162561114,5	K562	blood:
27	chr6:162721411..162723925-chr6:162726328..162729326,2	K562	blood:
28	chr6:162666890..162668464-chr6:162670216..162671922,2	K562	blood:

No data

Extended variants
information (count: 10629 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:10629 , 50 per page) page: 1 2 3 4 5 6 7 ... 213

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554341981	chr6:162448638-162448639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs577064637	chr6:162448652-162448653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546075769	chr6:162448660-162448661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562873061	chr6:162448662-162448663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143378067	chr6:162448727-162448728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541394031	chr6:162448891-162448892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529831448	chr6:162448962-162448963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561527375	chr6:162448981-162448982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547948666	chr6:162449023-162449024	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs186330250	chr6:162449041-162449042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547215385	chr6:162449073-162449074	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566353341	chr6:162449136-162449137	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533190085	chr6:162449144-162449145	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550020660	chr6:162449154-162449155	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569931459	chr6:162449156-162449157	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535757356	chr6:162449181-162449182	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192041128	chr6:162449213-162449214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560904647	chr6:162449241-162449242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568408938	chr6:162449244-162449245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564379186	chr6:162449307-162449308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181673053	chr6:162449346-162449347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs36041859	chr6:162449349-162449350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186381235	chr6:162449354-162449355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs190974674	chr6:162449356-162449357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570768842	chr6:162449395-162449396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537851077	chr6:162449425-162449426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539617672	chr6:162449426-162449427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556552078	chr6:162449462-162449463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531225534	chr6:162449499-162449500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576290486	chr6:162449510-162449511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542202769	chr6:162449540-162449541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs6912345	chr6:162449541-162449542	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs372932237	chr6:162449579-162449580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113865255	chr6:162449615-162449616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564141765	chr6:162449628-162449629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574802052	chr6:162449651-162449652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs78348414	chr6:162449680-162449681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs7753907	chr6:162449693-162449694	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs563477539	chr6:162449698-162449699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs151248285	chr6:162449701-162449702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs183094134	chr6:162449721-162449722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372579616	chr6:162449759-162449760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs79006804	chr6:162449814-162449815	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs78967265	chr6:162449815-162449816	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186666778	chr6:162449816-162449817	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs140423763	chr6:162449836-162449837	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113110633	chr6:162449901-162449902	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556332502	chr6:162449939-162449940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs369940336	chr6:162449975-162449976	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs111513044	chr6:162450024-162450025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

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
Schizophrenia	21346763	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD
Autism	22495309	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian cancer	22355333	CNVD

Chromatin state (count:830 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:162444800-162452200	Weak transcription	Pancreas	Pancrea
2	chr6:162446400-162449800	Weak transcription	Ovary	ovary
3	chr6:162449000-162449200	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr6:162449800-162450000	Enhancers	Ovary	ovary
5	chr6:162452600-162452800	Enhancers	Right Atrium	heart
6	chr6:162452800-162453800	Weak transcription	Right Atrium	heart
7	chr6:162453400-162454400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr6:162453400-162454400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr6:162453400-162454400	Enhancers	NHDF-Ad	bronchial
10	chr6:162453600-162454200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr6:162453800-162454200	Enhancers	Right Atrium	heart
12	chr6:162455400-162456000	Enhancers	NHEK	skin
13	chr6:162466800-162467000	Enhancers	Pancreas	Pancrea
14	chr6:162467000-162471800	Weak transcription	Pancreas	Pancrea
15	chr6:162470200-162479400	Weak transcription	Ovary	ovary
16	chr6:162471600-162476600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr6:162471800-162473000	Enhancers	Pancreas	Pancrea
18	chr6:162471800-162476800	Weak transcription	Right Ventricle	heart
19	chr6:162472200-162474800	Weak transcription	Brain Substantia Nigra	brain
20	chr6:162472400-162472600	Enhancers	Fetal Brain Male	brain
21	chr6:162473000-162475000	Weak transcription	Pancreas	Pancrea
22	chr6:162473600-162474400	Enhancers	Fetal Brain Female	brain
23	chr6:162474000-162475200	Enhancers	Liver	Liver
24	chr6:162474000-162478000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr6:162474200-162474400	Enhancers	Left Ventricle	heart
26	chr6:162474200-162474600	Enhancers	Fetal Brain Male	brain
27	chr6:162474400-162479600	Weak transcription	Left Ventricle	heart
28	chr6:162475000-162476000	Enhancers	Pancreas	Pancrea
29	chr6:162475200-162478200	Weak transcription	Liver	Liver
30	chr6:162476000-162476400	Weak transcription	Pancreas	Pancrea
31	chr6:162476200-162477400	Enhancers	A549	lung
32	chr6:162476400-162477600	Enhancers	Right Atrium	heart
33	chr6:162476400-162478200	Enhancers	Pancreas	Pancrea
34	chr6:162476600-162476800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr6:162476600-162476800	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr6:162476600-162477000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr6:162476600-162478200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr6:162476800-162477000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr6:162476800-162477400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr6:162476800-162477400	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr6:162476800-162478200	Enhancers	Right Ventricle	heart
42	chr6:162476800-162478600	Enhancers	Fetal Heart	heart
43	chr6:162477000-162477200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr6:162477000-162477200	Bivalent Enhancer	HepG2	liver
45	chr6:162477000-162477400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
46	chr6:162477000-162477400	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr6:162477000-162478200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr6:162477200-162477600	Enhancers	HepG2	liver
49	chr6:162477200-162477800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr6:162477200-162478200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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