Variant report

Variant	nsv481663
Chromosome Location	chr6:162572449-162861020
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:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

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

No data

Extended variants
information (count: 12224 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:12224 , 50 per page) page: 1 2 3 4 5 6 7 ... 245

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573240212	chr6:162572456-162572457	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs545178270	chr6:162572457-162572458	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs565439856	chr6:162572512-162572513	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs556873462	chr6:162572526-162572527	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs551235812	chr6:162572572-162572573	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs561282807	chr6:162572604-162572605	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs2023050	chr6:162572608-162572609	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs376188330	chr6:162572628-162572629	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs563253767	chr6:162572635-162572636	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs117275273	chr6:162572677-162572678	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs2023049	chr6:162572706-162572707	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs552001756	chr6:162572719-162572720	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs569011386	chr6:162572720-162572721	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs537679163	chr6:162572739-162572740	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs554893049	chr6:162572749-162572750	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs574830691	chr6:162572762-162572763	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs59052032	chr6:162572800-162572801	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs553360726	chr6:162572807-162572808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs573168455	chr6:162572808-162572809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs545453225	chr6:162572810-162572811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs148425930	chr6:162572815-162572816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs370238761	chr6:162572837-162572838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs544446807	chr6:162572848-162572849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs561245838	chr6:162572857-162572858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs141393645	chr6:162572910-162572911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs373358822	chr6:162572915-162572916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs530285397	chr6:162572918-162572919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs567523665	chr6:162572931-162572932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs540536019	chr6:162572951-162572952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs2849566	chr6:162572955-162572956	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs532038442	chr6:162572966-162572967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs536954256	chr6:162572987-162572988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs371945193	chr6:162572988-162572989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs114723236	chr6:162572997-162572998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs79772872	chr6:162573004-162573005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs115628384	chr6:162573007-162573008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs548356473	chr6:162573017-162573018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs568269552	chr6:162573047-162573048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs534042169	chr6:162573069-162573070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs189579590	chr6:162573105-162573106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs181333268	chr6:162573137-162573138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs116203477	chr6:162573142-162573143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs35812467	chr6:162573143-162573144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs6901293	chr6:162573174-162573175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs73592311	chr6:162573205-162573206	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs575698440	chr6:162573237-162573238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs544303544	chr6:162573243-162573244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs547099150	chr6:162573265-162573266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs554703403	chr6:162573283-162573284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs578258542	chr6:162573303-162573304	Weak transcription Enhancers	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:934 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

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	chr6:162571200-162573200	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr6:162571600-162572600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr6:162571600-162572800	Enhancers	HSMMtube	muscle
6	chr6:162571600-162573200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr6:162571800-162572600	Enhancers	Adipose Nuclei	Adipose
8	chr6:162571800-162572800	Enhancers	Primary hematopoietic stem cells	blood
9	chr6:162572000-162572600	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr6:162572000-162572800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
11	chr6:162572200-162573400	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr6:162572400-162572600	Enhancers	HSMM	muscle
13	chr6:162572400-162572600	Enhancers	NH-A	brain
14	chr6:162572400-162577800	Weak transcription	Psoas Muscle	Psoas
15	chr6:162572400-162578200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr6:162572600-162572800	Flanking Active TSS	HSMM	muscle
17	chr6:162572600-162573400	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr6:162572600-162574200	Weak transcription	Pancreas	Pancrea
19	chr6:162572800-162573200	Enhancers	Muscle Satellite Cultured Cells	--
20	chr6:162572800-162574200	Weak transcription	HSMM	muscle
21	chr6:162573200-162574200	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr6:162573400-162574200	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr6:162573400-162578200	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr6:162573600-162574000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr6:162573600-162574200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr6:162574000-162575600	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr6:162574200-162574400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr6:162574200-162574400	ZNF genes & repeats	Pancreas	Pancrea
29	chr6:162574200-162574400	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
30	chr6:162574200-162574400	Active TSS	HSMM	muscle
31	chr6:162574200-162574600	ZNF genes & repeats	Aorta	Aorta
32	chr6:162574200-162574600	ZNF genes & repeats	Spleen	Spleen
33	chr6:162574200-162575200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
34	chr6:162574200-162575200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr6:162574400-162574600	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr6:162575200-162576800	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr6:162575600-162578200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr6:162576400-162577000	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr6:162576800-162577000	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr6:162577000-162577400	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr6:162577000-162577800	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr6:162577400-162577600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr6:162577400-162578600	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr6:162577600-162584800	Weak transcription	Gastric	stomach
45	chr6:162577800-162578000	Enhancers	Pancreatic Islets	Pancreatic Islet
46	chr6:162577800-162578400	Enhancers	Psoas Muscle	Psoas
47	chr6:162578000-162578800	Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr6:162578200-162578400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr6:162578200-162578400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr6:162578200-162578600	Enhancers	Primary hematopoietic stem cells short term culture	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links