Variant report

Variant	nsv481683
Chromosome Location	chr6:162579021-162937508
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:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:162661286..162663139-chr6:162673530..162675376,2	K562	blood:
2	chr6:162574333..162576032-chr6:162578404..162580150,2	K562	blood:
3	chr6:162671180..162673472-chr6:162808694..162811227,2	K562	blood:
4	chr6:162671180..162673472-chr6:162808694..162811227,2	K562	blood:
5	chr6:162620407..162622935-chr6:162623040..162625617,2	K562	blood:
6	chr6:162721411..162723925-chr6:162726328..162729326,2	K562	blood:
7	chr6:162799485..162803733-chr6:162804296..162807777,5	K562	blood:
8	chr6:162613600..162615384-chr6:162617227..162618872,2	K562	blood:
9	chr6:162863816..162864618-chr6:163271757..163272511,2	MCF-7	breast:
10	chr6:162863367..162864320-chr6:163157771..163158572,4	MCF-7	breast:
11	chr6:162768506..162770213-chr6:162786241..162788330,2	K562	blood:
12	chr6:162643217..162645721-chr6:162646719..162648950,2	K562	blood:
13	chr6:162902802..162905070-chr6:162905406..162907332,2	K562	blood:
14	chr6:162763017..162765353-chr6:162767098..162769301,2	K562	blood:
15	chr6:162666890..162668464-chr6:162670216..162671922,2	K562	blood:
16	chr6:162902802..162905070-chr6:162905406..162907332,2	K562	blood:
17	chr6:162820265..162823089-chr6:162827852..162829559,2	K562	blood:
18	chr6:162721411..162723925-chr6:162726328..162729326,2	K562	blood:
19	chr6:162799485..162803733-chr6:162804296..162807777,5	K562	blood:
20	chr6:162666890..162668464-chr6:162670216..162671922,2	K562	blood:
21	chr6:162613600..162615384-chr6:162617227..162618872,2	K562	blood:
22	chr6:162661286..162663139-chr6:162673530..162675376,2	K562	blood:
23	chr6:162820265..162823089-chr6:162827852..162829559,2	K562	blood:
24	chr6:162620407..162622935-chr6:162623040..162625617,2	K562	blood:
25	chr6:162768506..162770213-chr6:162786241..162788330,2	K562	blood:
26	chr6:162643217..162645721-chr6:162646719..162648950,2	K562	blood:
27	chr6:162763017..162765353-chr6:162767098..162769301,2	K562	blood:

No data

Extended variants
information (count: 15153 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:15153 , 50 per page) page: 1 2 3 4 5 6 7 ... 304

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146017325	chr6:162579034-162579035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs74456372	chr6:162579061-162579062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564448622	chr6:162579103-162579104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs386708030	chr6:162579111-162579112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552625196	chr6:162579113-162579114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs386708031	chr6:162579118-162579119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568920963	chr6:162579119-162579120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs2849602	chr6:162579120-162579121	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs548690198	chr6:162579199-162579200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2849601	chr6:162579229-162579230	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs567762890	chr6:162579278-162579279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554167025	chr6:162579279-162579280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571075719	chr6:162579282-162579283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs182104355	chr6:162579311-162579312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187061300	chr6:162579314-162579315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576127675	chr6:162579352-162579353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531051903	chr6:162579372-162579373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2849600	chr6:162579404-162579405	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs76090078	chr6:162579447-162579448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs386708032	chr6:162579448-162579449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542633453	chr6:162579449-162579450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs56179543	chr6:162579450-162579451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs56365253	chr6:162579451-162579452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs75613586	chr6:162579452-162579453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs77412659	chr6:162579453-162579454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs28477431	chr6:162579466-162579467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111296997	chr6:162579470-162579471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564130489	chr6:162579472-162579473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189940395	chr6:162579478-162579479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs147990832	chr6:162579503-162579504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2849580	chr6:162579521-162579522	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs534091374	chr6:162579550-162579551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372762378	chr6:162579556-162579557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558617330	chr6:162579571-162579572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372055684	chr6:162579611-162579612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369580244	chr6:162579620-162579621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs527786369	chr6:162579631-162579632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2849599	chr6:162579661-162579662	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs571068746	chr6:162579706-162579707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2849579	chr6:162579710-162579711	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs556926493	chr6:162579727-162579728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569655978	chr6:162579728-162579729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12189787	chr6:162579794-162579795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145984377	chr6:162579808-162579809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs116754153	chr6:162579824-162579825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2849578	chr6:162579837-162579838	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs2849598	chr6:162579855-162579856	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs1893549	chr6:162579859-162579860	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs577439002	chr6:162579865-162579866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543295333	chr6:162579941-162579942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:1170 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:162577600-162584800	Weak transcription	Gastric	stomach
2	chr6:162578400-162580000	Weak transcription	Psoas Muscle	Psoas
3	chr6:162580000-162580200	Enhancers	Psoas Muscle	Psoas
4	chr6:162582600-162582800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:162582800-162584600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:162584600-162585000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:162584600-162585000	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr6:162584800-162585000	Enhancers	Gastric	stomach
9	chr6:162585400-162591000	Weak transcription	Right Atrium	heart
10	chr6:162591000-162591200	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr6:162591000-162591200	Enhancers	Right Atrium	heart
12	chr6:162591000-162591800	Enhancers	Psoas Muscle	Psoas
13	chr6:162591200-162591400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr6:162591200-162591800	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr6:162591200-162591800	Enhancers	Fetal Kidney	kidney
16	chr6:162591200-162607600	Weak transcription	Right Atrium	heart
17	chr6:162591400-162591600	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr6:162591400-162591800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr6:162591400-162592400	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr6:162591600-162592000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr6:162591800-162599800	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr6:162592000-162594600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr6:162592400-162593800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr6:162593800-162594400	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr6:162594200-162594800	Enhancers	HUVEC	blood vessel
26	chr6:162594400-162600000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr6:162596200-162599000	Weak transcription	Brain Cingulate Gyrus	brain
28	chr6:162596600-162596800	Enhancers	Psoas Muscle	Psoas
29	chr6:162596800-162599400	Weak transcription	Psoas Muscle	Psoas
30	chr6:162598600-162599600	Enhancers	Brain Anterior Caudate	brain
31	chr6:162598600-162599600	Enhancers	Brain Substantia Nigra	brain
32	chr6:162598600-162600000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr6:162598600-162600000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr6:162598600-162600200	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr6:162598600-162600600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr6:162598600-162601200	Enhancers	Fetal Heart	heart
37	chr6:162598800-162599000	Enhancers	Lung	lung
38	chr6:162598800-162599200	Enhancers	Muscle Satellite Cultured Cells	--
39	chr6:162598800-162599400	Enhancers	NH-A	brain
40	chr6:162598800-162599600	Enhancers	Right Ventricle	heart
41	chr6:162598800-162599800	Enhancers	Brain Hippocampus Middle	brain
42	chr6:162598800-162600200	Enhancers	Brain Germinal Matrix	brain
43	chr6:162598800-162600600	Enhancers	Fetal Muscle Leg	muscle
44	chr6:162599000-162599400	Enhancers	Fetal Lung	lung
45	chr6:162599000-162599600	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr6:162599000-162599800	Enhancers	Brain Cingulate Gyrus	brain
47	chr6:162599000-162600800	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr6:162599000-162601400	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr6:162599000-162603400	Weak transcription	Lung	lung
50	chr6:162599200-162602600	Weak transcription	Muscle Satellite Cultured Cells	--

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