Variant report

Variant	nsv481661
Chromosome Location	chr6:162594891-162853539
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:162613600..162615384-chr6:162617227..162618872,2	K562	blood:
2	chr6:162661286..162663139-chr6:162673530..162675376,2	K562	blood:
3	chr6:162661286..162663139-chr6:162673530..162675376,2	K562	blood:
4	chr6:162620407..162622935-chr6:162623040..162625617,2	K562	blood:
5	chr6:162763017..162765353-chr6:162767098..162769301,2	K562	blood:
6	chr6:162620407..162622935-chr6:162623040..162625617,2	K562	blood:
7	chr6:162671180..162673472-chr6:162808694..162811227,2	K562	blood:
8	chr6:162643217..162645721-chr6:162646719..162648950,2	K562	blood:
9	chr6:162721411..162723925-chr6:162726328..162729326,2	K562	blood:
10	chr6:162820265..162823089-chr6:162827852..162829559,2	K562	blood:
11	chr6:162799485..162803733-chr6:162804296..162807777,5	K562	blood:
12	chr6:162613600..162615384-chr6:162617227..162618872,2	K562	blood:
13	chr6:162768506..162770213-chr6:162786241..162788330,2	K562	blood:
14	chr6:162763017..162765353-chr6:162767098..162769301,2	K562	blood:
15	chr6:162721411..162723925-chr6:162726328..162729326,2	K562	blood:
16	chr6:162820265..162823089-chr6:162827852..162829559,2	K562	blood:
17	chr6:162643217..162645721-chr6:162646719..162648950,2	K562	blood:
18	chr6:162666890..162668464-chr6:162670216..162671922,2	K562	blood:
19	chr6:162666890..162668464-chr6:162670216..162671922,2	K562	blood:
20	chr6:162768506..162770213-chr6:162786241..162788330,2	K562	blood:
21	chr6:162799485..162803733-chr6:162804296..162807777,5	K562	blood:
22	chr6:162671180..162673472-chr6:162808694..162811227,2	K562	blood:

No data

Extended variants
information (count: 10903 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:10903 , 50 per page) page: 1 2 3 4 5 6 7 ... 219

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574579301	chr6:162594935-162594936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs143371303	chr6:162594936-162594937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs871387	chr6:162594941-162594942	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs532760957	chr6:162594982-162594983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs77591005	chr6:162594999-162595000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545747555	chr6:162595046-162595047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs565293361	chr6:162595054-162595055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs146768284	chr6:162595064-162595065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550560867	chr6:162595085-162595086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs139366190	chr6:162595114-162595115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530120817	chr6:162595119-162595120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539897138	chr6:162595147-162595148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566924308	chr6:162595199-162595200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192182475	chr6:162595212-162595213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs871386	chr6:162595232-162595233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568836581	chr6:162595258-162595259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184217780	chr6:162595265-162595266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs73592390	chr6:162595304-162595305	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs189359573	chr6:162595305-162595306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533847717	chr6:162595346-162595347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561802185	chr6:162595366-162595367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs78673431	chr6:162595370-162595371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs80168610	chr6:162595407-162595408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs144876517	chr6:162595420-162595421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs74534211	chr6:162595459-162595460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370844720	chr6:162595514-162595515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534710582	chr6:162595561-162595562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs74638474	chr6:162595578-162595579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs71739909	chr6:162595579-162595580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs386409184	chr6:162595582-162595583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs397748688	chr6:162595583-162595584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577378252	chr6:162595596-162595597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370904908	chr6:162595620-162595621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs9347595	chr6:162595632-162595633	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs556810863	chr6:162595633-162595634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs193008713	chr6:162595636-162595637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs73783435	chr6:162595642-162595643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs7453183	chr6:162595657-162595658	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs540333494	chr6:162595659-162595660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560747261	chr6:162595672-162595673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs34163328	chr6:162595678-162595679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532550114	chr6:162595741-162595742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs184674006	chr6:162595750-162595751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs149062780	chr6:162595763-162595764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532025609	chr6:162595768-162595769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs58395696	chr6:162595817-162595818	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs568029216	chr6:162595829-162595830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542593457	chr6:162595843-162595844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs74966585	chr6:162595856-162595857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189140995	chr6:162595889-162595890	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
Parkinson disease	21829596	CNVD
Gastric cancer	22315472	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
Schizophrenia	19805367	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:833 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:162591200-162607600	Weak transcription	Right Atrium	heart
2	chr6:162591800-162599800	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr6:162594400-162600000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr6:162596200-162599000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr6:162596600-162596800	Enhancers	Psoas Muscle	Psoas
6	chr6:162596800-162599400	Weak transcription	Psoas Muscle	Psoas
7	chr6:162598600-162599600	Enhancers	Brain Anterior Caudate	brain
8	chr6:162598600-162599600	Enhancers	Brain Substantia Nigra	brain
9	chr6:162598600-162600000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:162598600-162600000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr6:162598600-162600200	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr6:162598600-162600600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr6:162598600-162601200	Enhancers	Fetal Heart	heart
14	chr6:162598800-162599000	Enhancers	Lung	lung
15	chr6:162598800-162599200	Enhancers	Muscle Satellite Cultured Cells	--
16	chr6:162598800-162599400	Enhancers	NH-A	brain
17	chr6:162598800-162599600	Enhancers	Right Ventricle	heart
18	chr6:162598800-162599800	Enhancers	Brain Hippocampus Middle	brain
19	chr6:162598800-162600200	Enhancers	Brain Germinal Matrix	brain
20	chr6:162598800-162600600	Enhancers	Fetal Muscle Leg	muscle
21	chr6:162599000-162599400	Enhancers	Fetal Lung	lung
22	chr6:162599000-162599600	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr6:162599000-162599800	Enhancers	Brain Cingulate Gyrus	brain
24	chr6:162599000-162600800	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr6:162599000-162601400	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr6:162599000-162603400	Weak transcription	Lung	lung
27	chr6:162599200-162602600	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr6:162599400-162600600	Enhancers	Fetal Muscle Trunk	muscle
29	chr6:162599400-162600600	Enhancers	Left Ventricle	heart
30	chr6:162599400-162600800	Enhancers	Psoas Muscle	Psoas
31	chr6:162599400-162602600	Weak transcription	NH-A	brain
32	chr6:162599600-162607800	Weak transcription	Right Ventricle	heart
33	chr6:162599800-162601000	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr6:162600000-162600400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr6:162600000-162600800	Enhancers	Primary hematopoietic stem cells	blood
36	chr6:162600000-162601000	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr6:162600000-162601200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr6:162600000-162601400	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr6:162600200-162600800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr6:162600400-162600800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr6:162600600-162607600	Weak transcription	Left Ventricle	heart
42	chr6:162600800-162602000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr6:162600800-162602000	Weak transcription	Psoas Muscle	Psoas
44	chr6:162600800-162602200	Weak transcription	Primary hematopoietic stem cells	blood
45	chr6:162600800-162607600	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr6:162601000-162601400	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr6:162601000-162601400	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr6:162601200-162601600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr6:162601200-162602800	Weak transcription	Fetal Heart	heart
50	chr6:162601400-162601800	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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