Variant report

Variant	nsv482000
Chromosome Location	chr6:162520294-162710353
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:162525404..162526979-chr6:162529518..162531928,2	MCF-7	breast:
2	chr6:162671180..162673472-chr6:162808694..162811227,2	K562	blood:
3	chr6:162553757..162556831-chr6:162558713..162560436,3	K562	blood:
4	chr6:162552000..162556573-chr6:162556763..162561114,5	K562	blood:
5	chr6:162613600..162615384-chr6:162617227..162618872,2	K562	blood:
6	chr6:162620407..162622935-chr6:162623040..162625617,2	K562	blood:
7	chr6:162553757..162556831-chr6:162558713..162560436,3	K562	blood:
8	chr6:162666890..162668464-chr6:162670216..162671922,2	K562	blood:
9	chr6:162613600..162615384-chr6:162617227..162618872,2	K562	blood:
10	chr6:162552000..162556573-chr6:162556763..162561114,5	K562	blood:
11	chr6:162574333..162576032-chr6:162578404..162580150,2	K562	blood:
12	chr6:162620407..162622935-chr6:162623040..162625617,2	K562	blood:
13	chr6:162661286..162663139-chr6:162673530..162675376,2	K562	blood:
14	chr6:162525404..162526979-chr6:162529518..162531928,2	MCF-7	breast:
15	chr6:162661286..162663139-chr6:162673530..162675376,2	K562	blood:
16	chr6:162643217..162645721-chr6:162646719..162648950,2	K562	blood:
17	chr6:162574333..162576032-chr6:162578404..162580150,2	K562	blood:
18	chr6:162258059..162258779-chr6:162552660..162553528,2	MCF-7	breast:
19	chr6:162643217..162645721-chr6:162646719..162648950,2	K562	blood:
20	chr6:162666890..162668464-chr6:162670216..162671922,2	K562	blood:

No data

Extended variants
information (count: 7546 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:7546 , 50 per page) page: 1 2 3 4 5 6 7 ... 151

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140753557	chr6:162520329-162520330	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs531238282	chr6:162520353-162520354	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs144613859	chr6:162520457-162520458	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs116004812	chr6:162520461-162520462	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs549482084	chr6:162520468-162520469	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200781090	chr6:162520515-162520516	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568033551	chr6:162520563-162520564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs375646904	chr6:162520682-162520683	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186205143	chr6:162520689-162520690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs9458458	chr6:162520735-162520736	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs528910766	chr6:162520771-162520772	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530142032	chr6:162520824-162520825	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189835959	chr6:162520863-162520864	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs74861748	chr6:162520883-162520884	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182280154	chr6:162520914-162520915	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs147910638	chr6:162520929-162520930	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs13207270	chr6:162520940-162520941	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568865894	chr6:162520942-162520943	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537886501	chr6:162520951-162520952	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs184946340	chr6:162520952-162520953	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191224554	chr6:162520979-162520980	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs80054285	chr6:162520980-162520981	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183078100	chr6:162520984-162520985	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs56025249	chr6:162521028-162521029	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs141633336	chr6:162521035-162521036	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs78185344	chr6:162521036-162521037	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs143139570	chr6:162521041-162521042	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs544550268	chr6:162521068-162521069	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs78023622	chr6:162521072-162521073	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs561149134	chr6:162521093-162521094	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs530177912	chr6:162521094-162521095	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs555406637	chr6:162521164-162521165	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs540767273	chr6:162521181-162521182	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs151188230	chr6:162521240-162521241	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs79813355	chr6:162521251-162521252	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs188567994	chr6:162521258-162521259	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs140395282	chr6:162521259-162521260	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs531913680	chr6:162521268-162521269	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs548140162	chr6:162521317-162521318	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs567978163	chr6:162521321-162521322	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs112121987	chr6:162521367-162521368	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs193075305	chr6:162521441-162521442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs9456743	chr6:162521448-162521449	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs570305447	chr6:162521453-162521454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs138120078	chr6:162521466-162521467	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs367608174	chr6:162521473-162521474	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555946244	chr6:162521477-162521478	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576261064	chr6:162521481-162521482	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377594454	chr6:162521486-162521487	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540193001	chr6:162521502-162521503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
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

Chromatin state (count:551 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:162513600-162524800	Weak transcription	Ovary	ovary
2	chr6:162517800-162525600	Weak transcription	Aorta	Aorta
3	chr6:162518800-162521600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr6:162520000-162521800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr6:162520200-162521000	Enhancers	NH-A	brain
6	chr6:162520200-162521400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr6:162520200-162521400	Enhancers	HMEC	breast
8	chr6:162520200-162521400	Enhancers	NHDF-Ad	bronchial
9	chr6:162520200-162521600	Enhancers	Muscle Satellite Cultured Cells	--
10	chr6:162520400-162521200	Enhancers	A549	lung
11	chr6:162520400-162521400	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr6:162520400-162521400	Enhancers	NHEK	skin
13	chr6:162520400-162521600	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr6:162520400-162521600	Enhancers	HSMM	muscle
15	chr6:162520600-162521200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr6:162520800-162521200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr6:162521000-162521400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr6:162521000-162521400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr6:162521000-162521400	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr6:162521000-162521400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr6:162521000-162521400	Enhancers	HSMMtube	muscle
22	chr6:162521000-162521400	Flanking Active TSS	NH-A	brain
23	chr6:162521000-162521400	Enhancers	Osteobl	bone
24	chr6:162521800-162527600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr6:162524800-162525200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr6:162524800-162525200	Enhancers	Ovary	ovary
27	chr6:162524800-162525400	Enhancers	Gastric	stomach
28	chr6:162525200-162539800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr6:162527600-162528000	Enhancers	H9 Cell Line	embryonic stem cell
30	chr6:162527600-162528000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr6:162527600-162528200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr6:162527800-162528000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr6:162528000-162529800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr6:162529000-162529400	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr6:162529000-162529600	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr6:162529000-162529800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr6:162529000-162530000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr6:162529200-162530000	Enhancers	Pancreas	Pancrea
39	chr6:162529200-162530200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr6:162529200-162530600	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr6:162529400-162530000	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr6:162529800-162530600	Enhancers	Left Ventricle	heart
43	chr6:162529800-162530600	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr6:162529800-162530800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr6:162529800-162531000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr6:162530200-162530600	Enhancers	Psoas Muscle	Psoas
47	chr6:162530200-162531000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr6:162530200-162531000	Enhancers	Muscle Satellite Cultured Cells	--
49	chr6:162530200-162532600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr6:162530400-162530800	Enhancers	HMEC	breast

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