Variant report

Variant	nsv1021203
Chromosome Location	chr6:162582382-162780915
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 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	chr6:162666890..162668464-chr6:162670216..162671922,2	K562	blood:
4	chr6:162661286..162663139-chr6:162673530..162675376,2	K562	blood:
5	chr6:162721411..162723925-chr6:162726328..162729326,2	K562	blood:
6	chr6:162620407..162622935-chr6:162623040..162625617,2	K562	blood:
7	chr6:162666890..162668464-chr6:162670216..162671922,2	K562	blood:
8	chr6:162721411..162723925-chr6:162726328..162729326,2	K562	blood:
9	chr6:162768506..162770213-chr6:162786241..162788330,2	K562	blood:
10	chr6:162613600..162615384-chr6:162617227..162618872,2	K562	blood:
11	chr6:162671180..162673472-chr6:162808694..162811227,2	K562	blood:
12	chr6:162620407..162622935-chr6:162623040..162625617,2	K562	blood:
13	chr6:162643217..162645721-chr6:162646719..162648950,2	K562	blood:
14	chr6:162763017..162765353-chr6:162767098..162769301,2	K562	blood:
15	chr6:162763017..162765353-chr6:162767098..162769301,2	K562	blood:
16	chr6:162643217..162645721-chr6:162646719..162648950,2	K562	blood:

No data

Extended variants
information (count: 8291 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:8291 , 50 per page) page: 1 2 3 4 5 6 7 ... 166

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77985157	chr6:162582387-162582388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs147914181	chr6:162582408-162582409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546438252	chr6:162582476-162582477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566675731	chr6:162582479-162582480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182270645	chr6:162582491-162582492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542308547	chr6:162582525-162582526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs62437986	chr6:162582554-162582555	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs141603078	chr6:162582565-162582566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554958743	chr6:162582576-162582577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370119847	chr6:162582607-162582608	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2187203	chr6:162582612-162582613	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs115110859	chr6:162582614-162582615	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574008569	chr6:162582620-162582621	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs147816191	chr6:162582625-162582626	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553260581	chr6:162582638-162582639	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs12527289	chr6:162582665-162582666	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187289544	chr6:162582679-162582680	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565276480	chr6:162582692-162582693	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140400507	chr6:162582693-162582694	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2156264	chr6:162582718-162582719	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs76256006	chr6:162582750-162582751	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550088358	chr6:162582786-162582787	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs562140045	chr6:162582832-162582833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138087027	chr6:162582859-162582860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560071039	chr6:162582911-162582912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs578157289	chr6:162582939-162582940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545274365	chr6:162582971-162582972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs9295183	chr6:162582972-162582973	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs569125038	chr6:162582978-162582979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs77588217	chr6:162582979-162582980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550663799	chr6:162583031-162583032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs2187202	chr6:162583033-162583034	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs553466029	chr6:162583035-162583036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374030792	chr6:162583036-162583037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538891684	chr6:162583038-162583039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558730144	chr6:162583108-162583109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369165732	chr6:162583153-162583154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs527451918	chr6:162583175-162583176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575493345	chr6:162583281-162583282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191834922	chr6:162583313-162583314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs9365377	chr6:162583336-162583337	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs574405302	chr6:162583352-162583353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs78316447	chr6:162583361-162583362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560331584	chr6:162583364-162583365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532344679	chr6:162583453-162583454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs180865025	chr6:162583456-162583457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562685732	chr6:162583459-162583460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs78114066	chr6:162583484-162583485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531605631	chr6:162583486-162583487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184882741	chr6:162583499-162583500	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:564 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:162577600-162584800	Weak transcription	Gastric	stomach
2	chr6:162582600-162582800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:162582800-162584600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:162584600-162585000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:162584600-162585000	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr6:162584800-162585000	Enhancers	Gastric	stomach
7	chr6:162585400-162591000	Weak transcription	Right Atrium	heart
8	chr6:162591000-162591200	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr6:162591000-162591200	Enhancers	Right Atrium	heart
10	chr6:162591000-162591800	Enhancers	Psoas Muscle	Psoas
11	chr6:162591200-162591400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr6:162591200-162591800	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr6:162591200-162591800	Enhancers	Fetal Kidney	kidney
14	chr6:162591200-162607600	Weak transcription	Right Atrium	heart
15	chr6:162591400-162591600	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr6:162591400-162591800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr6:162591400-162592400	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr6:162591600-162592000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr6:162591800-162599800	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr6:162592000-162594600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr6:162592400-162593800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr6:162593800-162594400	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr6:162594200-162594800	Enhancers	HUVEC	blood vessel
24	chr6:162594400-162600000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr6:162596200-162599000	Weak transcription	Brain Cingulate Gyrus	brain
26	chr6:162596600-162596800	Enhancers	Psoas Muscle	Psoas
27	chr6:162596800-162599400	Weak transcription	Psoas Muscle	Psoas
28	chr6:162598600-162599600	Enhancers	Brain Anterior Caudate	brain
29	chr6:162598600-162599600	Enhancers	Brain Substantia Nigra	brain
30	chr6:162598600-162600000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr6:162598600-162600000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr6:162598600-162600200	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr6:162598600-162600600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr6:162598600-162601200	Enhancers	Fetal Heart	heart
35	chr6:162598800-162599000	Enhancers	Lung	lung
36	chr6:162598800-162599200	Enhancers	Muscle Satellite Cultured Cells	--
37	chr6:162598800-162599400	Enhancers	NH-A	brain
38	chr6:162598800-162599600	Enhancers	Right Ventricle	heart
39	chr6:162598800-162599800	Enhancers	Brain Hippocampus Middle	brain
40	chr6:162598800-162600200	Enhancers	Brain Germinal Matrix	brain
41	chr6:162598800-162600600	Enhancers	Fetal Muscle Leg	muscle
42	chr6:162599000-162599400	Enhancers	Fetal Lung	lung
43	chr6:162599000-162599600	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr6:162599000-162599800	Enhancers	Brain Cingulate Gyrus	brain
45	chr6:162599000-162600800	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr6:162599000-162601400	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr6:162599000-162603400	Weak transcription	Lung	lung
48	chr6:162599200-162602600	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr6:162599400-162600600	Enhancers	Fetal Muscle Trunk	muscle
50	chr6:162599400-162600600	Enhancers	Left Ventricle	heart

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