Variant report

Variant	nsv531337
Chromosome Location	chr6:162584300-162799381
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

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

No data

Extended variants
information (count: 8981 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:8981 , 50 per page) page: 1 2 3 4 5 6 7 ... 180

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79056843	chr6:162584304-162584305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs545955216	chr6:162584382-162584383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552282146	chr6:162584415-162584416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs569096032	chr6:162584433-162584434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538476212	chr6:162584451-162584452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs79160198	chr6:162584482-162584483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574468994	chr6:162584505-162584506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533951521	chr6:162584534-162584535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534237818	chr6:162584535-162584536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192388922	chr6:162584537-162584538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs117097508	chr6:162584540-162584541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543698124	chr6:162584565-162584566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs73592353	chr6:162584577-162584578	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs562053490	chr6:162584585-162584586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555826686	chr6:162584600-162584601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs529643066	chr6:162584641-162584642	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2849591	chr6:162584671-162584672	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs551296474	chr6:162584687-162584688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs1893546	chr6:162584701-162584702	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs1893556	chr6:162584753-162584754	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs548550105	chr6:162584840-162584841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs5881455	chr6:162584854-162584855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs111351946	chr6:162584857-162584858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs370446330	chr6:162584906-162584907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs114275011	chr6:162584924-162584925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs373608468	chr6:162584944-162584945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs540950645	chr6:162584982-162584983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs535214504	chr6:162585400-162585401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs111303116	chr6:162585401-162585402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370813168	chr6:162585421-162585422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs140000287	chr6:162585424-162585425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs1893541	chr6:162585427-162585428	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs373607011	chr6:162585463-162585464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs368273090	chr6:162585472-162585473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs1893554	chr6:162585489-162585490	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs1893553	chr6:162585523-162585524	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs543375345	chr6:162585551-162585552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562750193	chr6:162585563-162585564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186790492	chr6:162585618-162585619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369793972	chr6:162585628-162585629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs2023054	chr6:162585701-162585702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2849589	chr6:162585754-162585755	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs191924901	chr6:162585856-162585857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs150451529	chr6:162585872-162585873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs115061112	chr6:162585911-162585912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145284807	chr6:162586051-162586052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs2849576	chr6:162586066-162586067	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs540144536	chr6:162586071-162586072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567681250	chr6:162586093-162586094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184835230	chr6:162586132-162586133	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
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
Schizophrenia	19805367	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:618 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:162577600-162584800	Weak transcription	Gastric	stomach
2	chr6:162582800-162584600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:162584600-162585000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:162584600-162585000	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr6:162584800-162585000	Enhancers	Gastric	stomach
6	chr6:162585400-162591000	Weak transcription	Right Atrium	heart
7	chr6:162591000-162591200	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr6:162591000-162591200	Enhancers	Right Atrium	heart
9	chr6:162591000-162591800	Enhancers	Psoas Muscle	Psoas
10	chr6:162591200-162591400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr6:162591200-162591800	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr6:162591200-162591800	Enhancers	Fetal Kidney	kidney
13	chr6:162591200-162607600	Weak transcription	Right Atrium	heart
14	chr6:162591400-162591600	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr6:162591400-162591800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr6:162591400-162592400	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr6:162591600-162592000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr6:162591800-162599800	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr6:162592000-162594600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr6:162592400-162593800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr6:162593800-162594400	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr6:162594200-162594800	Enhancers	HUVEC	blood vessel
23	chr6:162594400-162600000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr6:162596200-162599000	Weak transcription	Brain Cingulate Gyrus	brain
25	chr6:162596600-162596800	Enhancers	Psoas Muscle	Psoas
26	chr6:162596800-162599400	Weak transcription	Psoas Muscle	Psoas
27	chr6:162598600-162599600	Enhancers	Brain Anterior Caudate	brain
28	chr6:162598600-162599600	Enhancers	Brain Substantia Nigra	brain
29	chr6:162598600-162600000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr6:162598600-162600000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr6:162598600-162600200	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr6:162598600-162600600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr6:162598600-162601200	Enhancers	Fetal Heart	heart
34	chr6:162598800-162599000	Enhancers	Lung	lung
35	chr6:162598800-162599200	Enhancers	Muscle Satellite Cultured Cells	--
36	chr6:162598800-162599400	Enhancers	NH-A	brain
37	chr6:162598800-162599600	Enhancers	Right Ventricle	heart
38	chr6:162598800-162599800	Enhancers	Brain Hippocampus Middle	brain
39	chr6:162598800-162600200	Enhancers	Brain Germinal Matrix	brain
40	chr6:162598800-162600600	Enhancers	Fetal Muscle Leg	muscle
41	chr6:162599000-162599400	Enhancers	Fetal Lung	lung
42	chr6:162599000-162599600	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr6:162599000-162599800	Enhancers	Brain Cingulate Gyrus	brain
44	chr6:162599000-162600800	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr6:162599000-162601400	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr6:162599000-162603400	Weak transcription	Lung	lung
47	chr6:162599200-162602600	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr6:162599400-162600600	Enhancers	Fetal Muscle Trunk	muscle
49	chr6:162599400-162600600	Enhancers	Left Ventricle	heart
50	chr6:162599400-162600800	Enhancers	Psoas Muscle	Psoas

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