Variant report

Variant	nsv481667
Chromosome Location	chr6:162602670-162870120
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	chr6:162661286..162663139-chr6:162673530..162675376,2	K562	blood:
2	chr6:162721411..162723925-chr6:162726328..162729326,2	K562	blood:
3	chr6:162763017..162765353-chr6:162767098..162769301,2	K562	blood:
4	chr6:162620407..162622935-chr6:162623040..162625617,2	K562	blood:
5	chr6:162661286..162663139-chr6:162673530..162675376,2	K562	blood:
6	chr6:162721411..162723925-chr6:162726328..162729326,2	K562	blood:
7	chr6:162643217..162645721-chr6:162646719..162648950,2	K562	blood:
8	chr6:162768506..162770213-chr6:162786241..162788330,2	K562	blood:
9	chr6:162820265..162823089-chr6:162827852..162829559,2	K562	blood:
10	chr6:162763017..162765353-chr6:162767098..162769301,2	K562	blood:
11	chr6:162666890..162668464-chr6:162670216..162671922,2	K562	blood:
12	chr6:162820265..162823089-chr6:162827852..162829559,2	K562	blood:
13	chr6:162671180..162673472-chr6:162808694..162811227,2	K562	blood:
14	chr6:162863367..162864320-chr6:163157771..163158572,4	MCF-7	breast:
15	chr6:162799485..162803733-chr6:162804296..162807777,5	K562	blood:
16	chr6:162768506..162770213-chr6:162786241..162788330,2	K562	blood:
17	chr6:162799485..162803733-chr6:162804296..162807777,5	K562	blood:
18	chr6:162613600..162615384-chr6:162617227..162618872,2	K562	blood:
19	chr6:162671180..162673472-chr6:162808694..162811227,2	K562	blood:
20	chr6:162613600..162615384-chr6:162617227..162618872,2	K562	blood:
21	chr6:162863816..162864618-chr6:163271757..163272511,2	MCF-7	breast:
22	chr6:162620407..162622935-chr6:162623040..162625617,2	K562	blood:
23	chr6:162643217..162645721-chr6:162646719..162648950,2	K562	blood:
24	chr6:162666890..162668464-chr6:162670216..162671922,2	K562	blood:

No data

Extended variants
information (count: 11328 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:11328 , 50 per page) page: 1 2 3 4 5 6 7 ... 227

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190293901	chr6:162602681-162602682	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs572635585	chr6:162602696-162602697	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs145648744	chr6:162602707-162602708	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs563711697	chr6:162602742-162602743	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs12208027	chr6:162602797-162602798	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs543072679	chr6:162602806-162602807	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs34872012	chr6:162602815-162602816	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs6939040	chr6:162602866-162602867	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs548892347	chr6:162602925-162602926	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531951009	chr6:162602927-162602928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543878694	chr6:162602983-162602984	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565998880	chr6:162603007-162603008	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs9456750	chr6:162603058-162603059	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs67852262	chr6:162603098-162603099	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs5881460	chr6:162603100-162603101	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200112284	chr6:162603101-162603102	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs398066461	chr6:162603104-162603105	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547832551	chr6:162603162-162603163	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182513003	chr6:162603174-162603175	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554203292	chr6:162603175-162603176	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs138182171	chr6:162603212-162603213	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529729215	chr6:162603289-162603290	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs1954946	chr6:162603318-162603319	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs566662475	chr6:162603329-162603330	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570042672	chr6:162603413-162603414	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs141202575	chr6:162603418-162603419	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs377568878	chr6:162603421-162603422	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs116103781	chr6:162603430-162603431	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs370115603	chr6:162603432-162603433	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs560233171	chr6:162603449-162603450	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs557338595	chr6:162603459-162603460	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs112944402	chr6:162603461-162603462	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs374835415	chr6:162603463-162603464	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs2226771	chr6:162603465-162603466	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs552453075	chr6:162603514-162603515	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs76810814	chr6:162603520-162603521	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs563081470	chr6:162603521-162603522	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs188766916	chr6:162603523-162603524	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs562575918	chr6:162603586-162603587	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs542834484	chr6:162603625-162603626	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs145069014	chr6:162603675-162603676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs73594228	chr6:162603735-162603736	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs75396369	chr6:162603844-162603845	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570782088	chr6:162603912-162603913	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565176973	chr6:162603918-162603919	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551836317	chr6:162603935-162603936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191510139	chr6:162603947-162603948	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550183491	chr6:162603958-162603959	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556268457	chr6:162603960-162603961	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs535552436	chr6:162603975-162603976	Enhancers 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
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:870 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:162591200-162607600	Weak transcription	Right Atrium	heart
2	chr6:162599000-162603400	Weak transcription	Lung	lung
3	chr6:162599600-162607800	Weak transcription	Right Ventricle	heart
4	chr6:162600600-162607600	Weak transcription	Left Ventricle	heart
5	chr6:162600800-162607600	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr6:162601200-162602800	Weak transcription	Fetal Heart	heart
7	chr6:162601400-162606200	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr6:162601400-162607600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr6:162601600-162603000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr6:162601800-162603800	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr6:162602000-162603800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr6:162602000-162603800	Enhancers	Adipose Nuclei	Adipose
13	chr6:162602200-162603800	Enhancers	Primary hematopoietic stem cells	blood
14	chr6:162602200-162603800	Enhancers	HUVEC	blood vessel
15	chr6:162602400-162602800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr6:162602600-162603200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr6:162602600-162603400	Enhancers	Muscle Satellite Cultured Cells	--
18	chr6:162602600-162603600	Enhancers	NH-A	brain
19	chr6:162602800-162603200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr6:162602800-162603200	Enhancers	Fetal Heart	heart
21	chr6:162602800-162603200	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr6:162602800-162603800	Enhancers	NHEK	skin
23	chr6:162602800-162604400	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr6:162603000-162603400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr6:162603000-162603400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr6:162603000-162603600	Enhancers	Primary B cells from peripheral blood	blood
27	chr6:162603000-162603600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr6:162603000-162603600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr6:162603200-162603600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr6:162603200-162606200	Weak transcription	Fetal Heart	heart
31	chr6:162603400-162603600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr6:162603400-162603600	Enhancers	Lung	lung
33	chr6:162603400-162603800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr6:162603400-162608200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr6:162603600-162604000	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr6:162603800-162605400	Weak transcription	HUVEC	blood vessel
37	chr6:162604000-162605200	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr6:162605200-162606400	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr6:162605400-162606800	Enhancers	HUVEC	blood vessel
40	chr6:162605800-162624200	Weak transcription	Pancreas	Pancrea
41	chr6:162606200-162609800	Enhancers	Fetal Heart	heart
42	chr6:162607600-162608200	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr6:162607600-162609600	Enhancers	Left Ventricle	heart
44	chr6:162607600-162609600	Enhancers	Right Atrium	heart
45	chr6:162607600-162609600	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr6:162607800-162608600	Enhancers	Right Ventricle	heart
47	chr6:162607800-162609600	Enhancers	Psoas Muscle	Psoas
48	chr6:162608200-162608600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr6:162608200-162608600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr6:162608200-162608800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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