Variant report

Variant	nsv482013
Chromosome Location	chr6:162573277-162733209
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:162666890..162668464-chr6:162670216..162671922,2	K562	blood:
2	chr6:162620407..162622935-chr6:162623040..162625617,2	K562	blood:
3	chr6:162613600..162615384-chr6:162617227..162618872,2	K562	blood:
4	chr6:162721411..162723925-chr6:162726328..162729326,2	K562	blood:
5	chr6:162721411..162723925-chr6:162726328..162729326,2	K562	blood:
6	chr6:162620407..162622935-chr6:162623040..162625617,2	K562	blood:
7	chr6:162574333..162576032-chr6:162578404..162580150,2	K562	blood:
8	chr6:162574333..162576032-chr6:162578404..162580150,2	K562	blood:
9	chr6:162613600..162615384-chr6:162617227..162618872,2	K562	blood:
10	chr6:162666890..162668464-chr6:162670216..162671922,2	K562	blood:
11	chr6:162671180..162673472-chr6:162808694..162811227,2	K562	blood:
12	chr6:162643217..162645721-chr6:162646719..162648950,2	K562	blood:
13	chr6:162661286..162663139-chr6:162673530..162675376,2	K562	blood:
14	chr6:162661286..162663139-chr6:162673530..162675376,2	K562	blood:
15	chr6:162643217..162645721-chr6:162646719..162648950,2	K562	blood:

No data

Extended variants
information (count: 6913 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:6913 , 50 per page) page: 1 2 3 4 5 6 7 ... 139

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554703403	chr6:162573283-162573284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs578258542	chr6:162573303-162573304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs2000751	chr6:162573342-162573343	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs560656272	chr6:162573367-162573368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs142927046	chr6:162573369-162573370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs73783425	chr6:162573407-162573408	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs151076706	chr6:162573420-162573421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs2000752	chr6:162573421-162573422	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs548320172	chr6:162573461-162573462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs73783426	chr6:162573467-162573468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs186251883	chr6:162573470-162573471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs190572814	chr6:162573512-162573513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs547700968	chr6:162573534-162573535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs114323792	chr6:162573559-162573560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs539022119	chr6:162573562-162573563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs558633999	chr6:162573587-162573588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs569245130	chr6:162573590-162573591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs183504934	chr6:162573596-162573597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs576027795	chr6:162573600-162573601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs112624270	chr6:162573650-162573651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs537010141	chr6:162573676-162573677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574670613	chr6:162573701-162573702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs141445112	chr6:162573702-162573703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs554442282	chr6:162573719-162573720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577416672	chr6:162573789-162573790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546483764	chr6:162573823-162573824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111542049	chr6:162573870-162573871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs62437978	chr6:162573952-162573953	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs114664902	chr6:162574034-162574035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs545728202	chr6:162574037-162574038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs527477028	chr6:162574040-162574041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs547324299	chr6:162574071-162574072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs564311890	chr6:162574072-162574073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs2000750	chr6:162574095-162574096	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs550066425	chr6:162574110-162574111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs568884346	chr6:162574112-162574113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs539575500	chr6:162574145-162574146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs116386466	chr6:162574166-162574167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs548267569	chr6:162574187-162574188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs140563407	chr6:162574205-162574206	Weak transcription ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs534029411	chr6:162574208-162574209	Weak transcription ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs150400360	chr6:162574227-162574228	Weak transcription ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs6922241	chr6:162574237-162574238	Weak transcription ZNF genes & repeats Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs115468398	chr6:162574264-162574265	Weak transcription ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs6922385	chr6:162574265-162574266	Weak transcription ZNF genes & repeats Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs138224917	chr6:162574296-162574297	Weak transcription ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs149152765	chr6:162574323-162574324	Weak transcription ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs113638708	chr6:162574333-162574334	Weak transcription ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs2849562	chr6:162574353-162574354	Weak transcription ZNF genes & repeats Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs541131799	chr6:162574380-162574381	Weak transcription ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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

Chromatin state (count:503 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:162563400-162574200	Weak transcription	Aorta	Aorta
2	chr6:162570800-162573600	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr6:162572200-162573400	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr6:162572400-162577800	Weak transcription	Psoas Muscle	Psoas
5	chr6:162572400-162578200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:162572600-162573400	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr6:162572600-162574200	Weak transcription	Pancreas	Pancrea
8	chr6:162572800-162574200	Weak transcription	HSMM	muscle
9	chr6:162573200-162574200	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr6:162573400-162574200	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr6:162573400-162578200	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr6:162573600-162574000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr6:162573600-162574200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr6:162574000-162575600	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr6:162574200-162574400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr6:162574200-162574400	ZNF genes & repeats	Pancreas	Pancrea
17	chr6:162574200-162574400	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
18	chr6:162574200-162574400	Active TSS	HSMM	muscle
19	chr6:162574200-162574600	ZNF genes & repeats	Aorta	Aorta
20	chr6:162574200-162574600	ZNF genes & repeats	Spleen	Spleen
21	chr6:162574200-162575200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
22	chr6:162574200-162575200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr6:162574400-162574600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr6:162575200-162576800	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr6:162575600-162578200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr6:162576400-162577000	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr6:162576800-162577000	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr6:162577000-162577400	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr6:162577000-162577800	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr6:162577400-162577600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr6:162577400-162578600	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr6:162577600-162584800	Weak transcription	Gastric	stomach
33	chr6:162577800-162578000	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr6:162577800-162578400	Enhancers	Psoas Muscle	Psoas
35	chr6:162578000-162578800	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr6:162578200-162578400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr6:162578200-162578400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr6:162578200-162578600	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr6:162578200-162578600	Enhancers	Brain Angular Gyrus	brain
40	chr6:162578200-162578600	Enhancers	Fetal Lung	lung
41	chr6:162578200-162578600	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr6:162578400-162578800	Enhancers	Colon Smooth Muscle	Colon
43	chr6:162578400-162580000	Weak transcription	Psoas Muscle	Psoas
44	chr6:162580000-162580200	Enhancers	Psoas Muscle	Psoas
45	chr6:162582600-162582800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr6:162582800-162584600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr6:162584600-162585000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr6:162584600-162585000	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr6:162584800-162585000	Enhancers	Gastric	stomach
50	chr6:162585400-162591000	Weak transcription	Right Atrium	heart

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