Variant report

Variant	nsv481698
Chromosome Location	chr6:162368612-162439825
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:162400767..162402435-chr6:162406575..162409112,2	K562	blood:
2	chr6:162372183..162373880-chr6:162375416..162378006,2	K562	blood:
3	chr6:162400767..162402435-chr6:162406575..162409112,2	K562	blood:
4	chr6:162380873..162382939-chr6:162388150..162390123,2	K562	blood:
5	chr6:162397480..162399223-chr6:162401761..162404565,2	K562	blood:
6	chr6:162436271..162438282-chr6:162512437..162514970,2	K562	blood:
7	chr6:162380873..162382939-chr6:162388150..162390123,2	K562	blood:
8	chr6:162372183..162373880-chr6:162375416..162378006,2	K562	blood:
9	chr6:162397480..162399223-chr6:162401761..162404565,2	K562	blood:

No data

Extended variants
information (count: 2149 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:2149 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527695197	chr6:162368646-162368647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs547458130	chr6:162368674-162368675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs185560781	chr6:162368681-162368682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs547678149	chr6:162368683-162368684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs539582486	chr6:162368686-162368687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs189025992	chr6:162368707-162368708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs553532024	chr6:162368741-162368742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536116984	chr6:162368742-162368743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs556112319	chr6:162368752-162368753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs571941308	chr6:162368825-162368826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs541008387	chr6:162368863-162368864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs9458424	chr6:162368885-162368886	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs192466688	chr6:162368887-162368888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs543198461	chr6:162368912-162368913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs529659322	chr6:162368918-162368919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs199608218	chr6:162368956-162368957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs183565841	chr6:162368967-162368968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs145478330	chr6:162368990-162368991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs547844475	chr6:162369006-162369007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs1790018	chr6:162369033-162369034	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs559244813	chr6:162369045-162369046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs143499806	chr6:162369064-162369065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547370726	chr6:162369082-162369083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564361880	chr6:162369120-162369121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543808477	chr6:162369122-162369123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs1790017	chr6:162369165-162369166	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs570197409	chr6:162369207-162369208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369303069	chr6:162369218-162369219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549629487	chr6:162369269-162369270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529384877	chr6:162369310-162369311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs9346891	chr6:162369311-162369312	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs9346892	chr6:162369314-162369315	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs140896402	chr6:162369334-162369335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577566647	chr6:162369379-162369380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537106954	chr6:162369434-162369435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556792393	chr6:162369445-162369446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533589652	chr6:162369448-162369449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs145135185	chr6:162369476-162369477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542391526	chr6:162369490-162369491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559156414	chr6:162369491-162369492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs138948066	chr6:162369550-162369551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs377373253	chr6:162369555-162369556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs78825069	chr6:162369598-162369599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544979085	chr6:162369649-162369650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs1784604	chr6:162369660-162369661	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs533188590	chr6:162369700-162369701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs570339351	chr6:162369746-162369747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs550221527	chr6:162369750-162369751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs563612862	chr6:162369752-162369753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs529444619	chr6:162369788-162369789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	20967226	CNVD
Bipolar disorder	19114987	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:147 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:162354200-162372200	Weak transcription	Right Atrium	heart
2	chr6:162364800-162377000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr6:162366000-162370000	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr6:162366400-162368800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr6:162367800-162368800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr6:162368000-162377200	Weak transcription	Fetal Brain Male	brain
7	chr6:162368600-162371600	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr6:162368800-162369000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr6:162368800-162371800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr6:162369000-162370600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr6:162369600-162370200	Enhancers	Pancreas	Pancrea
12	chr6:162369800-162371000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr6:162370000-162370200	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr6:162370200-162371800	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr6:162370200-162375000	Weak transcription	Pancreas	Pancrea
16	chr6:162370600-162371200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr6:162370800-162371000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr6:162371000-162384000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr6:162371600-162372600	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr6:162371600-162372600	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr6:162371600-162372800	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr6:162371800-162372600	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr6:162371800-162372600	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr6:162372200-162372600	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr6:162372200-162372600	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr6:162372200-162372600	Enhancers	Fetal Heart	heart
27	chr6:162372200-162372600	Enhancers	Right Atrium	heart
28	chr6:162372200-162372800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr6:162372400-162373000	Enhancers	Psoas Muscle	Psoas
30	chr6:162372400-162376000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr6:162372600-162375200	Weak transcription	Right Atrium	heart
32	chr6:162372600-162377000	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr6:162372600-162377000	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr6:162372600-162377000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr6:162372600-162377000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr6:162372600-162377000	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr6:162372600-162377200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr6:162372800-162374600	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr6:162374600-162374800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr6:162374600-162374800	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr6:162374600-162374800	Enhancers	Gastric	stomach
42	chr6:162374600-162376400	Enhancers	Left Ventricle	heart
43	chr6:162374800-162375400	Enhancers	HSMMtube	muscle
44	chr6:162374800-162380400	Weak transcription	Gastric	stomach
45	chr6:162375000-162375200	Enhancers	Pancreas	Pancrea
46	chr6:162375200-162375600	Enhancers	Fetal Brain Female	brain
47	chr6:162375200-162376200	Enhancers	Right Atrium	heart
48	chr6:162375200-162377600	Enhancers	Ovary	ovary
49	chr6:162375200-162384800	Weak transcription	Pancreas	Pancrea
50	chr6:162375800-162376400	Enhancers	Right Ventricle	heart

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