Variant report

Variant	nsv933480
Chromosome Location	chr6:162394250-162519917
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

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

No data

Extended variants
information (count: 3793 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:3793 , 50 per page) page: 1 2 3 4 5 6 7 ... 76

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528962770	chr6:162394263-162394264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs368076010	chr6:162394268-162394269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs548730727	chr6:162394279-162394280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs201881954	chr6:162394296-162394297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs565463567	chr6:162394300-162394301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs146173584	chr6:162394341-162394342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs137853054	chr6:162394349-162394350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs114974496	chr6:162394354-162394355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs144032774	chr6:162394367-162394368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs373822092	chr6:162394368-162394369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs571490973	chr6:162394379-162394380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs202212928	chr6:162394395-162394396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs539815495	chr6:162394397-162394398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs551801791	chr6:162394405-162394406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs137853058	chr6:162394433-162394434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs137853060	chr6:162394435-162394436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs576565848	chr6:162394487-162394488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs371504153	chr6:162394540-162394541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs139315438	chr6:162394549-162394550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs373743148	chr6:162394557-162394558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs62436002	chr6:162394558-162394559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs541299375	chr6:162394604-162394605	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564794010	chr6:162394625-162394626	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs142641131	chr6:162394682-162394683	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531208722	chr6:162394701-162394702	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563151440	chr6:162394730-162394731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528925593	chr6:162394762-162394763	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs367619269	chr6:162394775-162394776	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569924359	chr6:162394860-162394861	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs79525844	chr6:162394908-162394909	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112555387	chr6:162394976-162394977	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs111447237	chr6:162394991-162394992	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528260796	chr6:162395021-162395022	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs117235586	chr6:162395035-162395036	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs140901173	chr6:162395069-162395070	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536957571	chr6:162395109-162395110	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs150157577	chr6:162395156-162395157	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs1784586	chr6:162395163-162395164	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs535882570	chr6:162395191-162395192	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575357696	chr6:162395196-162395197	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555883852	chr6:162395213-162395214	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572615198	chr6:162395275-162395276	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541611492	chr6:162395283-162395284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558075527	chr6:162395286-162395287	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs78148447	chr6:162395321-162395322	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs193187975	chr6:162395336-162395337	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs75431673	chr6:162395369-162395370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs116014831	chr6:162395370-162395371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185078718	chr6:162395382-162395383	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368313156	chr6:162395435-162395436	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
Schizophrenia	20967226	CNVD
Bipolar disorder	19114987	CNVD
early-passage human iPS cells	21368824	CNVD
Parkinson disease	21829596	CNVD

Chromatin state (count:224 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:162382800-162396600	Weak transcription	Aorta	Aorta
2	chr6:162391000-162394600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:162392600-162395000	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr6:162392600-162395600	Weak transcription	Adipose Nuclei	Adipose
5	chr6:162394200-162394800	Enhancers	Fetal Kidney	kidney
6	chr6:162394400-162394800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr6:162394600-162395400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr6:162395000-162396400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr6:162395400-162396000	Enhancers	Placenta Amnion	Placenta Amnion
10	chr6:162395400-162400000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr6:162395600-162396000	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr6:162396400-162399600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr6:162396600-162397000	ZNF genes & repeats	Aorta	Aorta
14	chr6:162397200-162397400	Weak transcription	Gastric	stomach
15	chr6:162397400-162397600	Enhancers	Gastric	stomach
16	chr6:162399600-162400000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr6:162400000-162405800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr6:162401400-162401800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr6:162401400-162401800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr6:162401400-162401800	Enhancers	Brain Cingulate Gyrus	brain
21	chr6:162401800-162405800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:162401800-162405800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr6:162405800-162407400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr6:162405800-162408000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:162405800-162408000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr6:162406200-162406400	Enhancers	Fetal Intestine Small	intestine
27	chr6:162407400-162410800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr6:162410400-162411200	ZNF genes & repeats	Aorta	Aorta
29	chr6:162410600-162411400	ZNF genes & repeats	Pancreas	Pancrea
30	chr6:162411000-162411200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr6:162411400-162416600	Weak transcription	Pancreas	Pancrea
32	chr6:162413200-162413400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr6:162418600-162419800	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr6:162425400-162425600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr6:162425600-162427400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr6:162425600-162427400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr6:162435000-162435200	Enhancers	HepG2	liver
38	chr6:162435200-162435600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr6:162435200-162435600	Enhancers	Placenta Amnion	Placenta Amnion
40	chr6:162435200-162435600	Flanking Active TSS	HepG2	liver
41	chr6:162437800-162438000	ZNF genes & repeats	Pancreas	Pancrea
42	chr6:162438000-162444600	Weak transcription	Pancreas	Pancrea
43	chr6:162444200-162444600	Enhancers	Stomach Mucosa	stomach
44	chr6:162444600-162444800	ZNF genes & repeats	Pancreas	Pancrea
45	chr6:162444600-162448200	Weak transcription	Stomach Mucosa	stomach
46	chr6:162444800-162452200	Weak transcription	Pancreas	Pancrea
47	chr6:162446400-162449800	Weak transcription	Ovary	ovary
48	chr6:162446600-162447000	Enhancers	Fetal Brain Male	brain
49	chr6:162447000-162447200	Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr6:162447000-162448600	Enhancers	Duodenum Mucosa	Duodenum

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