Variant report

Variant	nsv886841
Chromosome Location	chr6:162396659-162537866
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:162397480..162399223-chr6:162401761..162404565,2	K562	blood:
2	chr6:162500411..162502828-chr6:162504694..162507642,2	K562	blood:
3	chr3:66689243..66689865-chr6:162514238..162514739,2	MCF-7	breast:
4	chr6:162400767..162402435-chr6:162406575..162409112,2	K562	blood:
5	chr6:162525404..162526979-chr6:162529518..162531928,2	MCF-7	breast:
6	chr6:162436271..162438282-chr6:162512437..162514970,2	K562	blood:
7	chr6:162470841..162473078-chr6:162475586..162477804,2	MCF-7	breast:
8	chr6:162500411..162502828-chr6:162504694..162507642,2	K562	blood:
9	chr6:162400767..162402435-chr6:162406575..162409112,2	K562	blood:
10	chr6:162525404..162526979-chr6:162529518..162531928,2	MCF-7	breast:
11	chr6:162397480..162399223-chr6:162401761..162404565,2	K562	blood:
12	chr6:162470841..162473078-chr6:162475586..162477804,2	MCF-7	breast:
13	chr6:162436271..162438282-chr6:162512437..162514970,2	K562	blood:

No data

Extended variants
information (count: 4493 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:4493 , 50 per page) page: 1 2 3 4 5 6 7 ... 90

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1789994	chr6:162396659-162396660	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs75964186	chr6:162396680-162396681	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs540509341	chr6:162396681-162396682	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs142723329	chr6:162396683-162396684	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs77857810	chr6:162396702-162396703	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs191101668	chr6:162396705-162396706	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs571602967	chr6:162396730-162396731	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs146059117	chr6:162396731-162396732	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs550728762	chr6:162396752-162396753	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs567543188	chr6:162396768-162396769	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs531274858	chr6:162396769-162396770	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs140092190	chr6:162396808-162396809	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs80224959	chr6:162396845-162396846	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs567196719	chr6:162396846-162396847	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs538255719	chr6:162396847-162396848	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs537665705	chr6:162396853-162396854	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs149794075	chr6:162396877-162396878	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs145008465	chr6:162396903-162396904	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs552580557	chr6:162396938-162396939	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs528942137	chr6:162396946-162396947	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs554731435	chr6:162396977-162396978	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs183165146	chr6:162396980-162396981	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs547108342	chr6:162396984-162396985	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs7752386	chr6:162397008-162397009	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs148656468	chr6:162397023-162397024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532439857	chr6:162397024-162397025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545031769	chr6:162397062-162397063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs59797645	chr6:162397087-162397088	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs368955477	chr6:162397091-162397092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs147838840	chr6:162397094-162397095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113451465	chr6:162397101-162397102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567455674	chr6:162397189-162397190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530223196	chr6:162397202-162397203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs141426158	chr6:162397210-162397211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567008808	chr6:162397237-162397238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551612466	chr6:162397284-162397285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375187627	chr6:162397297-162397298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112336579	chr6:162397314-162397315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113128421	chr6:162397343-162397344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569843784	chr6:162397344-162397345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572696301	chr6:162397462-162397463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs57244997	chr6:162397506-162397507	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs112729926	chr6:162397508-162397509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs36051008	chr6:162397515-162397516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs117965202	chr6:162397535-162397536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs567678122	chr6:162397556-162397557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs186808361	chr6:162397630-162397631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554692565	chr6:162397705-162397706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs114671274	chr6:162397723-162397724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540381982	chr6:162397743-162397744	Weak transcription	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
Schizophrenia	20967226	CNVD
Bipolar disorder	19114987	CNVD
early-passage human iPS cells	21368824	CNVD
Parkinson disease	21829596	CNVD

Chromatin state (count:274 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:162395400-162400000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:162396400-162399600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:162396600-162397000	ZNF genes & repeats	Aorta	Aorta
4	chr6:162397200-162397400	Weak transcription	Gastric	stomach
5	chr6:162397400-162397600	Enhancers	Gastric	stomach
6	chr6:162399600-162400000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:162400000-162405800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr6:162401400-162401800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:162401400-162401800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr6:162401400-162401800	Enhancers	Brain Cingulate Gyrus	brain
11	chr6:162401800-162405800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:162401800-162405800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr6:162405800-162407400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr6:162405800-162408000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:162405800-162408000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr6:162406200-162406400	Enhancers	Fetal Intestine Small	intestine
17	chr6:162407400-162410800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr6:162410400-162411200	ZNF genes & repeats	Aorta	Aorta
19	chr6:162410600-162411400	ZNF genes & repeats	Pancreas	Pancrea
20	chr6:162411000-162411200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr6:162411400-162416600	Weak transcription	Pancreas	Pancrea
22	chr6:162413200-162413400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr6:162418600-162419800	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr6:162425400-162425600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr6:162425600-162427400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr6:162425600-162427400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr6:162435000-162435200	Enhancers	HepG2	liver
28	chr6:162435200-162435600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr6:162435200-162435600	Enhancers	Placenta Amnion	Placenta Amnion
30	chr6:162435200-162435600	Flanking Active TSS	HepG2	liver
31	chr6:162437800-162438000	ZNF genes & repeats	Pancreas	Pancrea
32	chr6:162438000-162444600	Weak transcription	Pancreas	Pancrea
33	chr6:162444200-162444600	Enhancers	Stomach Mucosa	stomach
34	chr6:162444600-162444800	ZNF genes & repeats	Pancreas	Pancrea
35	chr6:162444600-162448200	Weak transcription	Stomach Mucosa	stomach
36	chr6:162444800-162452200	Weak transcription	Pancreas	Pancrea
37	chr6:162446400-162449800	Weak transcription	Ovary	ovary
38	chr6:162446600-162447000	Enhancers	Fetal Brain Male	brain
39	chr6:162447000-162447200	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr6:162447000-162448600	Enhancers	Duodenum Mucosa	Duodenum
41	chr6:162447000-162448600	Enhancers	Fetal Intestine Small	intestine
42	chr6:162447200-162447800	Enhancers	Fetal Kidney	kidney
43	chr6:162447200-162447800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr6:162447600-162448400	Active TSS	Liver	Liver
45	chr6:162447800-162448400	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr6:162448200-162448600	Enhancers	Stomach Mucosa	stomach
47	chr6:162449000-162449200	Enhancers	Pancreatic Islets	Pancreatic Islet
48	chr6:162449800-162450000	Enhancers	Ovary	ovary
49	chr6:162452600-162452800	Enhancers	Right Atrium	heart
50	chr6:162452800-162453800	Weak transcription	Right Atrium	heart

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