Variant report

Variant	nsv481650
Chromosome Location	chr6:162512887-162796474
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	chr3:66689243..66689865-chr6:162514238..162514739,2	MCF-7	breast:
2	chr6:162553757..162556831-chr6:162558713..162560436,3	K562	blood:
3	chr6:162436271..162438282-chr6:162512437..162514970,2	K562	blood:
4	chr6:162574333..162576032-chr6:162578404..162580150,2	K562	blood:
5	chr6:162643217..162645721-chr6:162646719..162648950,2	K562	blood:
6	chr6:162666890..162668464-chr6:162670216..162671922,2	K562	blood:
7	chr6:162620407..162622935-chr6:162623040..162625617,2	K562	blood:
8	chr6:162643217..162645721-chr6:162646719..162648950,2	K562	blood:
9	chr6:162666890..162668464-chr6:162670216..162671922,2	K562	blood:
10	chr6:162574333..162576032-chr6:162578404..162580150,2	K562	blood:
11	chr6:162671180..162673472-chr6:162808694..162811227,2	K562	blood:
12	chr6:162525404..162526979-chr6:162529518..162531928,2	MCF-7	breast:
13	chr6:162661286..162663139-chr6:162673530..162675376,2	K562	blood:
14	chr6:162661286..162663139-chr6:162673530..162675376,2	K562	blood:
15	chr6:162552000..162556573-chr6:162556763..162561114,5	K562	blood:
16	chr6:162763017..162765353-chr6:162767098..162769301,2	K562	blood:
17	chr6:162721411..162723925-chr6:162726328..162729326,2	K562	blood:
18	chr6:162613600..162615384-chr6:162617227..162618872,2	K562	blood:
19	chr6:162613600..162615384-chr6:162617227..162618872,2	K562	blood:
20	chr6:162768506..162770213-chr6:162786241..162788330,2	K562	blood:
21	chr6:162552000..162556573-chr6:162556763..162561114,5	K562	blood:
22	chr6:162258059..162258779-chr6:162552660..162553528,2	MCF-7	breast:
23	chr6:162721411..162723925-chr6:162726328..162729326,2	K562	blood:
24	chr6:162768506..162770213-chr6:162786241..162788330,2	K562	blood:
25	chr6:162620407..162622935-chr6:162623040..162625617,2	K562	blood:
26	chr6:162763017..162765353-chr6:162767098..162769301,2	K562	blood:
27	chr6:162553757..162556831-chr6:162558713..162560436,3	K562	blood:
28	chr6:162525404..162526979-chr6:162529518..162531928,2	MCF-7	breast:

No data

Extended variants
information (count: 11296 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:11296 , 50 per page) page: 1 2 3 4 5 6 7 ... 226

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs151250939	chr6:162513606-162513607	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs58371083	chr6:162513607-162513608	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs6917337	chr6:162513651-162513652	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs189179529	chr6:162513721-162513722	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530861531	chr6:162513746-162513747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550652864	chr6:162513752-162513753	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs567382196	chr6:162513767-162513768	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs9346901	chr6:162513834-162513835	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs546853248	chr6:162513848-162513849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs377672066	chr6:162513878-162513879	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs9355383	chr6:162513894-162513895	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs9346902	chr6:162513967-162513968	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs559318701	chr6:162513979-162513980	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs140468373	chr6:162513990-162513991	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564531079	chr6:162514002-162514003	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs9347587	chr6:162514037-162514038	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs370210379	chr6:162514084-162514085	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs150402622	chr6:162514102-162514103	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs80090689	chr6:162514118-162514119	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138235828	chr6:162514130-162514131	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs79175184	chr6:162514169-162514170	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs114835519	chr6:162514193-162514194	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142392916	chr6:162514223-162514224	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577000439	chr6:162514243-162514244	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545777984	chr6:162514251-162514252	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562484651	chr6:162514254-162514255	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531511600	chr6:162514331-162514332	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550514287	chr6:162514342-162514343	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560972061	chr6:162514347-162514348	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530105884	chr6:162514384-162514385	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7759298	chr6:162514407-162514408	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs374489522	chr6:162514450-162514451	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs114253301	chr6:162514460-162514461	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12663550	chr6:162514502-162514503	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs78380303	chr6:162514508-162514509	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368709996	chr6:162514527-162514528	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538538793	chr6:162514528-162514529	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs7746172	chr6:162514539-162514540	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs534744354	chr6:162514546-162514547	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574389033	chr6:162514547-162514548	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533635100	chr6:162514569-162514570	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs146988835	chr6:162514604-162514605	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12663262	chr6:162514641-162514642	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs545553921	chr6:162514681-162514682	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181807051	chr6:162514702-162514703	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575904386	chr6:162514724-162514725	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541740627	chr6:162514765-162514766	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs115865852	chr6:162514789-162514790	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113823181	chr6:162514850-162514851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs116194135	chr6:162514864-162514865	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
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

Chromatin state (count:815 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:162513600-162514800	Enhancers	Fetal Heart	heart
2	chr6:162513600-162524800	Weak transcription	Ovary	ovary
3	chr6:162514800-162515400	Enhancers	Pancreas	Pancrea
4	chr6:162514800-162517600	Weak transcription	Aorta	Aorta
5	chr6:162517600-162517800	ZNF genes & repeats	Aorta	Aorta
6	chr6:162517800-162525600	Weak transcription	Aorta	Aorta
7	chr6:162518800-162521600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr6:162520000-162521800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr6:162520200-162521000	Enhancers	NH-A	brain
10	chr6:162520200-162521400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr6:162520200-162521400	Enhancers	HMEC	breast
12	chr6:162520200-162521400	Enhancers	NHDF-Ad	bronchial
13	chr6:162520200-162521600	Enhancers	Muscle Satellite Cultured Cells	--
14	chr6:162520400-162521200	Enhancers	A549	lung
15	chr6:162520400-162521400	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr6:162520400-162521400	Enhancers	NHEK	skin
17	chr6:162520400-162521600	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr6:162520400-162521600	Enhancers	HSMM	muscle
19	chr6:162520600-162521200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr6:162520800-162521200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr6:162521000-162521400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr6:162521000-162521400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr6:162521000-162521400	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr6:162521000-162521400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr6:162521000-162521400	Enhancers	HSMMtube	muscle
26	chr6:162521000-162521400	Flanking Active TSS	NH-A	brain
27	chr6:162521000-162521400	Enhancers	Osteobl	bone
28	chr6:162521800-162527600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr6:162524800-162525200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr6:162524800-162525200	Enhancers	Ovary	ovary
31	chr6:162524800-162525400	Enhancers	Gastric	stomach
32	chr6:162525200-162539800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr6:162527600-162528000	Enhancers	H9 Cell Line	embryonic stem cell
34	chr6:162527600-162528000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr6:162527600-162528200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr6:162527800-162528000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr6:162528000-162529800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr6:162529000-162529400	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr6:162529000-162529600	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr6:162529000-162529800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr6:162529000-162530000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr6:162529200-162530000	Enhancers	Pancreas	Pancrea
43	chr6:162529200-162530200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr6:162529200-162530600	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr6:162529400-162530000	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr6:162529800-162530600	Enhancers	Left Ventricle	heart
47	chr6:162529800-162530600	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr6:162529800-162530800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr6:162529800-162531000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr6:162530200-162530600	Enhancers	Psoas Muscle	Psoas

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