Variant report

Variant	nsv482004
Chromosome Location	chr6:162517194-162719705
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	chr6:162258059..162258779-chr6:162552660..162553528,2	MCF-7	breast:
2	chr6:162661286..162663139-chr6:162673530..162675376,2	K562	blood:
3	chr6:162620407..162622935-chr6:162623040..162625617,2	K562	blood:
4	chr6:162661286..162663139-chr6:162673530..162675376,2	K562	blood:
5	chr6:162620407..162622935-chr6:162623040..162625617,2	K562	blood:
6	chr6:162553757..162556831-chr6:162558713..162560436,3	K562	blood:
7	chr6:162552000..162556573-chr6:162556763..162561114,5	K562	blood:
8	chr6:162525404..162526979-chr6:162529518..162531928,2	MCF-7	breast:
9	chr6:162666890..162668464-chr6:162670216..162671922,2	K562	blood:
10	chr6:162574333..162576032-chr6:162578404..162580150,2	K562	blood:
11	chr6:162613600..162615384-chr6:162617227..162618872,2	K562	blood:
12	chr6:162552000..162556573-chr6:162556763..162561114,5	K562	blood:
13	chr6:162643217..162645721-chr6:162646719..162648950,2	K562	blood:
14	chr6:162671180..162673472-chr6:162808694..162811227,2	K562	blood:
15	chr6:162553757..162556831-chr6:162558713..162560436,3	K562	blood:
16	chr6:162666890..162668464-chr6:162670216..162671922,2	K562	blood:
17	chr6:162613600..162615384-chr6:162617227..162618872,2	K562	blood:
18	chr6:162643217..162645721-chr6:162646719..162648950,2	K562	blood:
19	chr6:162525404..162526979-chr6:162529518..162531928,2	MCF-7	breast:
20	chr6:162574333..162576032-chr6:162578404..162580150,2	K562	blood:

No data

Extended variants
information (count: 8091 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:8091 , 50 per page) page: 1 2 3 4 5 6 7 ... 162

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551691329	chr6:162517243-162517244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs571520914	chr6:162517301-162517302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537366936	chr6:162517373-162517374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556563226	chr6:162517374-162517375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs78432651	chr6:162517493-162517494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535925341	chr6:162517529-162517530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555631466	chr6:162517572-162517573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572592046	chr6:162517603-162517604	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568188052	chr6:162517632-162517633	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs144027591	chr6:162517658-162517659	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182658858	chr6:162517707-162517708	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs146124226	chr6:162517708-162517709	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs140109535	chr6:162517721-162517722	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562927145	chr6:162517732-162517733	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569491681	chr6:162517742-162517743	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186935174	chr6:162517776-162517777	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs79276671	chr6:162517790-162517791	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559222088	chr6:162517801-162517802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs36192490	chr6:162517807-162517808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201395014	chr6:162517817-162517818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113236268	chr6:162517822-162517823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs71004079	chr6:162517906-162517907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145891227	chr6:162517938-162517939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542584421	chr6:162517942-162517943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149002051	chr6:162517946-162517947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572336554	chr6:162517962-162517963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs7766924	chr6:162517967-162517968	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs374784559	chr6:162517969-162517970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550923248	chr6:162517992-162517993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs151028256	chr6:162518011-162518012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs9346903	chr6:162518062-162518063	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs576356434	chr6:162518115-162518116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372036725	chr6:162518143-162518144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs146468728	chr6:162518154-162518155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535139113	chr6:162518169-162518170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192862997	chr6:162518186-162518187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562001888	chr6:162518199-162518200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183497895	chr6:162518232-162518233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529394866	chr6:162518237-162518238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs557277370	chr6:162518238-162518239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs377299027	chr6:162518246-162518247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541236181	chr6:162518247-162518248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs139129520	chr6:162518248-162518249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs142214238	chr6:162518284-162518285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555487779	chr6:162518357-162518358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12213385	chr6:162518360-162518361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs78273952	chr6:162518379-162518380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545159187	chr6:162518391-162518392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565052043	chr6:162518398-162518399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs530775539	chr6:162518450-162518451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
Ovarian cancer	22355333	CNVD

Chromatin state (count:650 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:162513600-162524800	Weak transcription	Ovary	ovary
2	chr6:162514800-162517600	Weak transcription	Aorta	Aorta
3	chr6:162517600-162517800	ZNF genes & repeats	Aorta	Aorta
4	chr6:162517800-162525600	Weak transcription	Aorta	Aorta
5	chr6:162518800-162521600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr6:162520000-162521800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr6:162520200-162521000	Enhancers	NH-A	brain
8	chr6:162520200-162521400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr6:162520200-162521400	Enhancers	HMEC	breast
10	chr6:162520200-162521400	Enhancers	NHDF-Ad	bronchial
11	chr6:162520200-162521600	Enhancers	Muscle Satellite Cultured Cells	--
12	chr6:162520400-162521200	Enhancers	A549	lung
13	chr6:162520400-162521400	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr6:162520400-162521400	Enhancers	NHEK	skin
15	chr6:162520400-162521600	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr6:162520400-162521600	Enhancers	HSMM	muscle
17	chr6:162520600-162521200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr6:162520800-162521200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr6:162521000-162521400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr6:162521000-162521400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr6:162521000-162521400	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr6:162521000-162521400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr6:162521000-162521400	Enhancers	HSMMtube	muscle
24	chr6:162521000-162521400	Flanking Active TSS	NH-A	brain
25	chr6:162521000-162521400	Enhancers	Osteobl	bone
26	chr6:162521800-162527600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr6:162524800-162525200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr6:162524800-162525200	Enhancers	Ovary	ovary
29	chr6:162524800-162525400	Enhancers	Gastric	stomach
30	chr6:162525200-162539800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr6:162527600-162528000	Enhancers	H9 Cell Line	embryonic stem cell
32	chr6:162527600-162528000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr6:162527600-162528200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr6:162527800-162528000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr6:162528000-162529800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr6:162529000-162529400	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr6:162529000-162529600	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr6:162529000-162529800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr6:162529000-162530000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr6:162529200-162530000	Enhancers	Pancreas	Pancrea
41	chr6:162529200-162530200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr6:162529200-162530600	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr6:162529400-162530000	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr6:162529800-162530600	Enhancers	Left Ventricle	heart
45	chr6:162529800-162530600	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr6:162529800-162530800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr6:162529800-162531000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr6:162530200-162530600	Enhancers	Psoas Muscle	Psoas
49	chr6:162530200-162531000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr6:162530200-162531000	Enhancers	Muscle Satellite Cultured Cells	--

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