Variant report

Variant	nsv481658
Chromosome Location	chr6:162529266-162839578
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:30)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:162820265..162823089-chr6:162827852..162829559,2	K562	blood:
2	chr6:162643217..162645721-chr6:162646719..162648950,2	K562	blood:
3	chr6:162553757..162556831-chr6:162558713..162560436,3	K562	blood:
4	chr6:162721411..162723925-chr6:162726328..162729326,2	K562	blood:
5	chr6:162768506..162770213-chr6:162786241..162788330,2	K562	blood:
6	chr6:162763017..162765353-chr6:162767098..162769301,2	K562	blood:
7	chr6:162553757..162556831-chr6:162558713..162560436,3	K562	blood:
8	chr6:162620407..162622935-chr6:162623040..162625617,2	K562	blood:
9	chr6:162666890..162668464-chr6:162670216..162671922,2	K562	blood:
10	chr6:162671180..162673472-chr6:162808694..162811227,2	K562	blood:
11	chr6:162768506..162770213-chr6:162786241..162788330,2	K562	blood:
12	chr6:162613600..162615384-chr6:162617227..162618872,2	K562	blood:
13	chr6:162552000..162556573-chr6:162556763..162561114,5	K562	blood:
14	chr6:162613600..162615384-chr6:162617227..162618872,2	K562	blood:
15	chr6:162620407..162622935-chr6:162623040..162625617,2	K562	blood:
16	chr6:162574333..162576032-chr6:162578404..162580150,2	K562	blood:
17	chr6:162721411..162723925-chr6:162726328..162729326,2	K562	blood:
18	chr6:162666890..162668464-chr6:162670216..162671922,2	K562	blood:
19	chr6:162763017..162765353-chr6:162767098..162769301,2	K562	blood:
20	chr6:162799485..162803733-chr6:162804296..162807777,5	K562	blood:
21	chr6:162574333..162576032-chr6:162578404..162580150,2	K562	blood:
22	chr6:162258059..162258779-chr6:162552660..162553528,2	MCF-7	breast:
23	chr6:162661286..162663139-chr6:162673530..162675376,2	K562	blood:
24	chr6:162661286..162663139-chr6:162673530..162675376,2	K562	blood:
25	chr6:162552000..162556573-chr6:162556763..162561114,5	K562	blood:
26	chr6:162525404..162526979-chr6:162529518..162531928,2	MCF-7	breast:
27	chr6:162820265..162823089-chr6:162827852..162829559,2	K562	blood:
28	chr6:162643217..162645721-chr6:162646719..162648950,2	K562	blood:
29	chr6:162671180..162673472-chr6:162808694..162811227,2	K562	blood:
30	chr6:162799485..162803733-chr6:162804296..162807777,5	K562	blood:

No data

Extended variants
information (count: 12498 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:12498 , 50 per page) page: 1 2 3 4 5 6 7 ... 250

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557449731	chr6:162529280-162529281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs577616955	chr6:162529290-162529291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs543144416	chr6:162529328-162529329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563357582	chr6:162529332-162529333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs146005153	chr6:162529370-162529371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs542816922	chr6:162529382-162529383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs185638308	chr6:162529390-162529391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs368630352	chr6:162529461-162529462	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569308580	chr6:162529473-162529474	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12202046	chr6:162529483-162529484	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113353636	chr6:162529490-162529491	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528380413	chr6:162529500-162529501	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370030026	chr6:162529512-162529513	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370198941	chr6:162529525-162529526	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189187732	chr6:162529537-162529538	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs139938860	chr6:162529556-162529557	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs9355384	chr6:162529567-162529568	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs56267239	chr6:162529568-162529569	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549909534	chr6:162529613-162529614	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs377469685	chr6:162529618-162529619	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569785247	chr6:162529624-162529625	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529361531	chr6:162529636-162529637	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549146840	chr6:162529709-162529710	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551008103	chr6:162529727-162529728	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535007069	chr6:162529778-162529779	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs62436047	chr6:162529807-162529808	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs571858523	chr6:162529817-162529818	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs75014784	chr6:162529818-162529819	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370407329	chr6:162529937-162529938	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs76796544	chr6:162529941-162529942	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573745667	chr6:162529973-162529974	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs143355075	chr6:162530007-162530008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs373576561	chr6:162530015-162530016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs377195389	chr6:162530016-162530017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs151234724	chr6:162530024-162530025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs114235638	chr6:162530058-162530059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs9458459	chr6:162530070-162530071	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs565139737	chr6:162530071-162530072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs563755421	chr6:162530081-162530082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs370926003	chr6:162530083-162530084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs530734965	chr6:162530087-162530088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs182070428	chr6:162530088-162530089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs10455896	chr6:162530090-162530091	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs34364553	chr6:162530109-162530110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs563372997	chr6:162530122-162530123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs140389137	chr6:162530127-162530128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs116218764	chr6:162530129-162530130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs10455897	chr6:162530136-162530137	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs186602949	chr6:162530149-162530150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs551688653	chr6:162530157-162530158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:108)

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
Schizophrenia	23813976	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:1024 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:162525200-162539800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:162528000-162529800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr6:162529000-162529400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr6:162529000-162529600	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr6:162529000-162529800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:162529000-162530000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr6:162529200-162530000	Enhancers	Pancreas	Pancrea
8	chr6:162529200-162530200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:162529200-162530600	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr6:162529400-162530000	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr6:162529800-162530600	Enhancers	Left Ventricle	heart
12	chr6:162529800-162530600	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr6:162529800-162530800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr6:162529800-162531000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr6:162530200-162530600	Enhancers	Psoas Muscle	Psoas
16	chr6:162530200-162531000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr6:162530200-162531000	Enhancers	Muscle Satellite Cultured Cells	--
18	chr6:162530200-162532600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr6:162530400-162530800	Enhancers	HMEC	breast
20	chr6:162530400-162530800	Enhancers	HUVEC	blood vessel
21	chr6:162530400-162530800	Enhancers	NH-A	brain
22	chr6:162530400-162530800	Enhancers	NHDF-Ad	bronchial
23	chr6:162530400-162531000	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr6:162530400-162531000	Enhancers	Fetal Heart	heart
25	chr6:162530400-162531000	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr6:162530600-162532000	Weak transcription	Left Ventricle	heart
27	chr6:162531000-162532000	Weak transcription	Ovary	ovary
28	chr6:162532000-162532200	Enhancers	Left Ventricle	heart
29	chr6:162532000-162532200	Enhancers	Ovary	ovary
30	chr6:162532600-162533200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr6:162536400-162543200	Weak transcription	Aorta	Aorta
32	chr6:162537800-162538600	Enhancers	Fetal Stomach	stomach
33	chr6:162538600-162540200	Weak transcription	Fetal Stomach	stomach
34	chr6:162539800-162540000	Enhancers	Psoas Muscle	Psoas
35	chr6:162539800-162540400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr6:162539800-162540600	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr6:162539800-162541000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr6:162539800-162541000	Enhancers	Muscle Satellite Cultured Cells	--
39	chr6:162539800-162541000	Enhancers	NHDF-Ad	bronchial
40	chr6:162539800-162541200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr6:162539800-162541200	Enhancers	Fetal Muscle Leg	muscle
42	chr6:162539800-162541200	Enhancers	HSMM	muscle
43	chr6:162539800-162541400	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr6:162539800-162541600	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr6:162540000-162540200	Enhancers	Brain Substantia Nigra	brain
46	chr6:162540000-162540600	Weak transcription	Psoas Muscle	Psoas
47	chr6:162540000-162541000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr6:162540000-162541000	Enhancers	Colon Smooth Muscle	Colon
49	chr6:162540000-162541200	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr6:162540000-162541400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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