Variant report

Variant	nsv481685
Chromosome Location	chr6:162574739-162937708
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:28)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:28 , 50 per page) page: 1

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

No data

Extended variants
information (count: 15363 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:15363 , 50 per page) page: 1 2 3 4 5 6 7 ... 308

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75509918	chr6:162574757-162574758	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs192154088	chr6:162574789-162574790	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs570412317	chr6:162574801-162574802	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs2187199	chr6:162574840-162574841	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs113344720	chr6:162574842-162574843	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs561104272	chr6:162574897-162574898	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs73592323	chr6:162574912-162574913	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs116512317	chr6:162574914-162574915	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs35624032	chr6:162574948-162574949	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs869296	chr6:162574982-162574983	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs77338585	chr6:162574985-162574986	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs75969813	chr6:162574987-162574988	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs182615384	chr6:162574997-162574998	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs79357409	chr6:162575033-162575034	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs187696264	chr6:162575045-162575046	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs529110427	chr6:162575058-162575059	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs115027601	chr6:162575069-162575070	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs561716764	chr6:162575119-162575120	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs192801633	chr6:162575140-162575141	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs547554427	chr6:162575166-162575167	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs114163141	chr6:162575167-162575168	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs150707481	chr6:162575191-162575192	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs869297	chr6:162575221-162575222	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs570274484	chr6:162575225-162575226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs536123520	chr6:162575240-162575241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs116689201	chr6:162575241-162575242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs182506809	chr6:162575246-162575247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs114023352	chr6:162575275-162575276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs139094147	chr6:162575283-162575284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs577619245	chr6:162575288-162575289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs543161963	chr6:162575291-162575292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs869298	chr6:162575299-162575300	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs869299	chr6:162575347-162575348	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs9791255	chr6:162575350-162575351	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs73592329	chr6:162575362-162575363	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs146863307	chr6:162575365-162575366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs377708491	chr6:162575370-162575371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs527673446	chr6:162575398-162575399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs541464355	chr6:162575399-162575400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs117390082	chr6:162575426-162575427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs149476069	chr6:162575445-162575446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs118182115	chr6:162575497-162575498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs7747176	chr6:162575514-162575515	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs7747183	chr6:162575535-162575536	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs549684606	chr6:162575543-162575544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs558703147	chr6:162575556-162575557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs5881452	chr6:162575557-162575558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs58103567	chr6:162575570-162575571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs116864210	chr6:162575584-162575585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs192173577	chr6:162575585-162575586	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:1194 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:162572400-162577800	Weak transcription	Psoas Muscle	Psoas
2	chr6:162572400-162578200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:162573400-162578200	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr6:162574000-162575600	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr6:162574200-162575200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
6	chr6:162574200-162575200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr6:162575200-162576800	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr6:162575600-162578200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr6:162576400-162577000	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr6:162576800-162577000	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr6:162577000-162577400	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr6:162577000-162577800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr6:162577400-162577600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr6:162577400-162578600	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr6:162577600-162584800	Weak transcription	Gastric	stomach
16	chr6:162577800-162578000	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr6:162577800-162578400	Enhancers	Psoas Muscle	Psoas
18	chr6:162578000-162578800	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr6:162578200-162578400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr6:162578200-162578400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr6:162578200-162578600	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr6:162578200-162578600	Enhancers	Brain Angular Gyrus	brain
23	chr6:162578200-162578600	Enhancers	Fetal Lung	lung
24	chr6:162578200-162578600	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr6:162578400-162578800	Enhancers	Colon Smooth Muscle	Colon
26	chr6:162578400-162580000	Weak transcription	Psoas Muscle	Psoas
27	chr6:162580000-162580200	Enhancers	Psoas Muscle	Psoas
28	chr6:162582600-162582800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr6:162582800-162584600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr6:162584600-162585000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr6:162584600-162585000	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr6:162584800-162585000	Enhancers	Gastric	stomach
33	chr6:162585400-162591000	Weak transcription	Right Atrium	heart
34	chr6:162591000-162591200	Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr6:162591000-162591200	Enhancers	Right Atrium	heart
36	chr6:162591000-162591800	Enhancers	Psoas Muscle	Psoas
37	chr6:162591200-162591400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr6:162591200-162591800	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr6:162591200-162591800	Enhancers	Fetal Kidney	kidney
40	chr6:162591200-162607600	Weak transcription	Right Atrium	heart
41	chr6:162591400-162591600	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr6:162591400-162591800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr6:162591400-162592400	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr6:162591600-162592000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr6:162591800-162599800	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr6:162592000-162594600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr6:162592400-162593800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr6:162593800-162594400	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr6:162594200-162594800	Enhancers	HUVEC	blood vessel
50	chr6:162594400-162600000	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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