Variant report

Variant	nsv830855
Chromosome Location	chr6:162466125-162657536
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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:162500411..162502828-chr6:162504694..162507642,2	K562	blood:
2	chr6:162553757..162556831-chr6:162558713..162560436,3	K562	blood:
3	chr6:162436271..162438282-chr6:162512437..162514970,2	K562	blood:
4	chr6:162613600..162615384-chr6:162617227..162618872,2	K562	blood:
5	chr6:162552000..162556573-chr6:162556763..162561114,5	K562	blood:
6	chr6:162553757..162556831-chr6:162558713..162560436,3	K562	blood:
7	chr3:66689243..66689865-chr6:162514238..162514739,2	MCF-7	breast:
8	chr6:162574333..162576032-chr6:162578404..162580150,2	K562	blood:
9	chr6:162643217..162645721-chr6:162646719..162648950,2	K562	blood:
10	chr6:162525404..162526979-chr6:162529518..162531928,2	MCF-7	breast:
11	chr6:162470841..162473078-chr6:162475586..162477804,2	MCF-7	breast:
12	chr6:162258059..162258779-chr6:162552660..162553528,2	MCF-7	breast:
13	chr6:162613600..162615384-chr6:162617227..162618872,2	K562	blood:
14	chr6:162643217..162645721-chr6:162646719..162648950,2	K562	blood:
15	chr6:162470841..162473078-chr6:162475586..162477804,2	MCF-7	breast:
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	chr6:162620407..162622935-chr6:162623040..162625617,2	K562	blood:
20	chr6:162525404..162526979-chr6:162529518..162531928,2	MCF-7	breast:
21	chr6:162552000..162556573-chr6:162556763..162561114,5	K562	blood:

No data

Extended variants
information (count: 7342 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:7342 , 50 per page) page: 1 2 3 4 5 6 7 ... 147

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533515277	chr6:162466805-162466806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs553769895	chr6:162466847-162466848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576859402	chr6:162466867-162466868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs11752640	chr6:162466869-162466870	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs7750668	chr6:162466900-162466901	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs576270050	chr6:162466918-162466919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs542066779	chr6:162466958-162466959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs116764399	chr6:162466968-162466969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs188129335	chr6:162467035-162467036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546675629	chr6:162467037-162467038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560957761	chr6:162467059-162467060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs181288566	chr6:162467077-162467078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138062571	chr6:162467092-162467093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552606477	chr6:162467102-162467103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs7771997	chr6:162467160-162467161	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs186491156	chr6:162467204-162467205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73590336	chr6:162467234-162467235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568407555	chr6:162467240-162467241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146792045	chr6:162467242-162467243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139213909	chr6:162467268-162467269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565441934	chr6:162467278-162467279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs141575986	chr6:162467291-162467292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs150893062	chr6:162467343-162467344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191725203	chr6:162467366-162467367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs576207309	chr6:162467389-162467390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs377130137	chr6:162467396-162467397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556062885	chr6:162467408-162467409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs67461649	chr6:162467476-162467477	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs551181865	chr6:162467479-162467480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561904006	chr6:162467483-162467484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs138322647	chr6:162467491-162467492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs77605584	chr6:162467505-162467506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186633177	chr6:162467519-162467520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530456189	chr6:162467530-162467531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371176023	chr6:162467556-162467557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532508686	chr6:162467582-162467583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146053502	chr6:162467605-162467606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs552295728	chr6:162467716-162467717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369536401	chr6:162467759-162467760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562605346	chr6:162467768-162467769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531734629	chr6:162467790-162467791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548956060	chr6:162467829-162467830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548368599	chr6:162467830-162467831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568342614	chr6:162467843-162467844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534208139	chr6:162467847-162467848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs9458441	chr6:162467854-162467855	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs571079407	chr6:162467889-162467890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs114602760	chr6:162467911-162467912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200569742	chr6:162467936-162467937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs398110902	chr6:162467947-162467948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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

Chromatin state (count:616 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:162466800-162467000	Enhancers	Pancreas	Pancrea
2	chr6:162467000-162471800	Weak transcription	Pancreas	Pancrea
3	chr6:162470200-162479400	Weak transcription	Ovary	ovary
4	chr6:162471600-162476600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:162471800-162473000	Enhancers	Pancreas	Pancrea
6	chr6:162471800-162476800	Weak transcription	Right Ventricle	heart
7	chr6:162472200-162474800	Weak transcription	Brain Substantia Nigra	brain
8	chr6:162472400-162472600	Enhancers	Fetal Brain Male	brain
9	chr6:162473000-162475000	Weak transcription	Pancreas	Pancrea
10	chr6:162473600-162474400	Enhancers	Fetal Brain Female	brain
11	chr6:162474000-162475200	Enhancers	Liver	Liver
12	chr6:162474000-162478000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr6:162474200-162474400	Enhancers	Left Ventricle	heart
14	chr6:162474200-162474600	Enhancers	Fetal Brain Male	brain
15	chr6:162474400-162479600	Weak transcription	Left Ventricle	heart
16	chr6:162475000-162476000	Enhancers	Pancreas	Pancrea
17	chr6:162475200-162478200	Weak transcription	Liver	Liver
18	chr6:162476000-162476400	Weak transcription	Pancreas	Pancrea
19	chr6:162476200-162477400	Enhancers	A549	lung
20	chr6:162476400-162477600	Enhancers	Right Atrium	heart
21	chr6:162476400-162478200	Enhancers	Pancreas	Pancrea
22	chr6:162476600-162476800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr6:162476600-162476800	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr6:162476600-162477000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr6:162476600-162478200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr6:162476800-162477000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr6:162476800-162477400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr6:162476800-162477400	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr6:162476800-162478200	Enhancers	Right Ventricle	heart
30	chr6:162476800-162478600	Enhancers	Fetal Heart	heart
31	chr6:162477000-162477200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr6:162477000-162477200	Bivalent Enhancer	HepG2	liver
33	chr6:162477000-162477400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
34	chr6:162477000-162477400	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr6:162477000-162478200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr6:162477200-162477600	Enhancers	HepG2	liver
37	chr6:162477200-162477800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr6:162477200-162478200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr6:162477200-162478800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr6:162477400-162477600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr6:162477400-162477800	Enhancers	Placenta Amnion	Placenta Amnion
42	chr6:162477400-162478200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr6:162477400-162478200	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr6:162477400-162478200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr6:162477400-162478800	Flanking Active TSS	A549	lung
46	chr6:162477600-162478000	Enhancers	H1 Cell Line	embryonic stem cell
47	chr6:162477600-162478000	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr6:162477600-162478000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr6:162477600-162478400	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr6:162477600-162478400	Active TSS	Duodenum Smooth Muscle	Duodenum

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