Variant report

Variant	nsv481839
Chromosome Location	chr6:162479504-162636664
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:162620407..162622935-chr6:162623040..162625617,2	K562	blood:
2	chr6:162552000..162556573-chr6:162556763..162561114,5	K562	blood:
3	chr6:162553757..162556831-chr6:162558713..162560436,3	K562	blood:
4	chr3:66689243..66689865-chr6:162514238..162514739,2	MCF-7	breast:
5	chr6:162525404..162526979-chr6:162529518..162531928,2	MCF-7	breast:
6	chr6:162613600..162615384-chr6:162617227..162618872,2	K562	blood:
7	chr6:162553757..162556831-chr6:162558713..162560436,3	K562	blood:
8	chr6:162574333..162576032-chr6:162578404..162580150,2	K562	blood:
9	chr6:162552000..162556573-chr6:162556763..162561114,5	K562	blood:
10	chr6:162525404..162526979-chr6:162529518..162531928,2	MCF-7	breast:
11	chr6:162613600..162615384-chr6:162617227..162618872,2	K562	blood:
12	chr6:162500411..162502828-chr6:162504694..162507642,2	K562	blood:
13	chr6:162436271..162438282-chr6:162512437..162514970,2	K562	blood:
14	chr6:162258059..162258779-chr6:162552660..162553528,2	MCF-7	breast:
15	chr6:162620407..162622935-chr6:162623040..162625617,2	K562	blood:
16	chr6:162500411..162502828-chr6:162504694..162507642,2	K562	blood:
17	chr6:162574333..162576032-chr6:162578404..162580150,2	K562	blood:

No data

Extended variants
information (count: 5827 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:5827 , 50 per page) page: 1 2 3 4 5 6 7 ... 117

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117171766	chr6:162479538-162479539	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs138987719	chr6:162479552-162479553	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs543756578	chr6:162479571-162479572	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs563017382	chr6:162479640-162479641	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576517159	chr6:162479675-162479676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184197122	chr6:162479676-162479677	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562361945	chr6:162479704-162479705	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528040670	chr6:162479706-162479707	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375916388	chr6:162479722-162479723	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs138407625	chr6:162479840-162479841	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555066427	chr6:162479850-162479851	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs199904974	chr6:162479851-162479852	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs144969719	chr6:162479853-162479854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532959518	chr6:162479862-162479863	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs139864358	chr6:162479922-162479923	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569741163	chr6:162479929-162479930	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143831411	chr6:162479941-162479942	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs116970792	chr6:162479989-162479990	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs553927046	chr6:162479990-162479991	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549206718	chr6:162480006-162480007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs565615214	chr6:162480028-162480029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs146843382	chr6:162480042-162480043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs201122172	chr6:162480133-162480134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs551903964	chr6:162480146-162480147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs565144316	chr6:162480161-162480162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs117684187	chr6:162480165-162480166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs140726596	chr6:162480188-162480189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs537310785	chr6:162480192-162480193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs576523911	chr6:162480196-162480197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs542056972	chr6:162480203-162480204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs556026625	chr6:162480304-162480305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs151038457	chr6:162480330-162480331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs541713047	chr6:162480335-162480336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs564791529	chr6:162480347-162480348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs5881448	chr6:162480363-162480364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs376100410	chr6:162480364-162480365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs397823754	chr6:162480365-162480366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs370793439	chr6:162480366-162480367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs117243357	chr6:162480577-162480578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs543445356	chr6:162480578-162480579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs563234680	chr6:162480589-162480590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs529011449	chr6:162480602-162480603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535075683	chr6:162480744-162480745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553500145	chr6:162480745-162480746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188724062	chr6:162480751-162480752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565502244	chr6:162480802-162480803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528289631	chr6:162480818-162480819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547794967	chr6:162480874-162480875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs13193751	chr6:162480879-162480880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571220214	chr6:162481018-162481019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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

Chromatin state (count:500 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:162474400-162479600	Weak transcription	Left Ventricle	heart
2	chr6:162478000-162482600	Weak transcription	Psoas Muscle	Psoas
3	chr6:162478200-162479600	Enhancers	Liver	Liver
4	chr6:162478200-162479600	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr6:162478600-162482000	Weak transcription	Fetal Heart	heart
6	chr6:162478800-162483400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr6:162479000-162480000	Enhancers	Fetal Intestine Small	intestine
8	chr6:162479200-162479600	Flanking Active TSS	A549	lung
9	chr6:162479200-162479600	Flanking Active TSS	HepG2	liver
10	chr6:162479200-162479600	Enhancers	HMEC	breast
11	chr6:162479200-162480000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr6:162479200-162480000	Enhancers	Pancreas	Pancrea
13	chr6:162479200-162480000	Enhancers	Stomach Mucosa	stomach
14	chr6:162479400-162479600	Enhancers	Ovary	ovary
15	chr6:162479400-162479600	Enhancers	Right Atrium	heart
16	chr6:162479400-162479800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr6:162479600-162479800	Enhancers	Left Ventricle	heart
18	chr6:162479600-162480000	Weak transcription	Liver	Liver
19	chr6:162479600-162480200	Enhancers	HepG2	liver
20	chr6:162479600-162480600	Enhancers	A549	lung
21	chr6:162479600-162482600	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr6:162480000-162480600	Enhancers	Liver	Liver
23	chr6:162480000-162482200	Weak transcription	Pancreas	Pancrea
24	chr6:162480000-162494600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr6:162480600-162481000	Weak transcription	A549	lung
26	chr6:162481000-162481200	Enhancers	A549	lung
27	chr6:162481200-162482800	Weak transcription	A549	lung
28	chr6:162482000-162483200	Enhancers	Fetal Heart	heart
29	chr6:162482400-162482600	Enhancers	Pancreas	Pancrea
30	chr6:162482600-162482800	Enhancers	Psoas Muscle	Psoas
31	chr6:162482600-162484000	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr6:162482800-162483200	Weak transcription	Psoas Muscle	Psoas
33	chr6:162482800-162483400	Enhancers	A549	lung
34	chr6:162483000-162483400	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr6:162483200-162483800	Enhancers	Psoas Muscle	Psoas
36	chr6:162483400-162483800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr6:162483400-162484800	Weak transcription	A549	lung
38	chr6:162483800-162485000	Weak transcription	Psoas Muscle	Psoas
39	chr6:162484000-162487800	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr6:162484800-162485200	Enhancers	A549	lung
41	chr6:162485000-162485200	Enhancers	Psoas Muscle	Psoas
42	chr6:162488000-162488200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr6:162488200-162501200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr6:162489400-162489800	Enhancers	Psoas Muscle	Psoas
45	chr6:162489400-162489800	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr6:162491400-162492000	Enhancers	Right Ventricle	heart
47	chr6:162491600-162492000	ZNF genes & repeats	Aorta	Aorta
48	chr6:162492000-162494200	Weak transcription	Aorta	Aorta
49	chr6:162494200-162494400	ZNF genes & repeats	Aorta	Aorta
50	chr6:162494600-162494800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links