Variant report

Variant	nsv457121
Chromosome Location	chr15:42396282-42418085
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:42407343..42409321-chr15:42417002..42418957,2	K562	blood:
2	chr15:42359873..42362452-chr15:42410836..42413040,2	K562	blood:
3	chr15:42398541..42400541-chr15:42411116..42413868,2	K562	blood:
4	chr15:42398541..42400541-chr15:42411116..42413868,2	K562	blood:
5	chr15:42407343..42409321-chr15:42417002..42418957,2	K562	blood:
6	chr15:42378120..42380874-chr15:42393384..42396333,2	K562	blood:

Extended variants
information (count: 874 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:874 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17748427	chr15:42396282-42396283	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs528987074	chr15:42396371-42396372	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs370226995	chr15:42396399-42396400	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs143553971	chr15:42396408-42396409	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs565635471	chr15:42396435-42396436	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs528103918	chr15:42396446-42396447	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs186386632	chr15:42396485-42396486	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs28459781	chr15:42396490-42396491	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs537321703	chr15:42396496-42396497	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs111603429	chr15:42396509-42396510	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs1008781	chr15:42396510-42396511	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs148603434	chr15:42396516-42396517	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs374045625	chr15:42396523-42396524	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs191920880	chr15:42396530-42396531	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs183005378	chr15:42396599-42396600	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs1008782	chr15:42396609-42396610	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs577999825	chr15:42396637-42396638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs543659052	chr15:42396642-42396643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs142074251	chr15:42396645-42396646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs529131139	chr15:42396647-42396648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs151210067	chr15:42396654-42396655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs559056361	chr15:42396657-42396658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs185934822	chr15:42396659-42396660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs117824014	chr15:42396669-42396670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs570865442	chr15:42396670-42396671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs370951857	chr15:42396689-42396690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs531120231	chr15:42396696-42396697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs533506531	chr15:42396732-42396733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs190836792	chr15:42396776-42396777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs2167295	chr15:42396877-42396878	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs17691880	chr15:42396911-42396912	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs139220717	chr15:42396942-42396943	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs115336631	chr15:42397011-42397012	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539087000	chr15:42397036-42397037	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548421503	chr15:42397038-42397039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558998925	chr15:42397053-42397054	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575746769	chr15:42397057-42397058	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182702112	chr15:42397067-42397068	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187040057	chr15:42397078-42397079	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs557250191	chr15:42397087-42397088	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573838033	chr15:42397148-42397149	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543940212	chr15:42397182-42397183	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559092669	chr15:42397183-42397184	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs641640	chr15:42397220-42397221	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs192248413	chr15:42397231-42397232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs182951864	chr15:42397244-42397245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs28681179	chr15:42397291-42397292	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs550287649	chr15:42397311-42397312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs146493584	chr15:42397353-42397354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs34116123	chr15:42397385-42397386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
HDAC8	0	CNVD
NIPBL	0	CNVD
RAD21	0	CNVD
SMC1A	0	CNVD
SMC3	0	CNVD
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Angelman syndrome	16183798	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Testicular germ cell tumor	18059402	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16774939	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Cancer	21129771	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21045282	CNVD
Breast cancer	22032731	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Myelofibrosis	22110671	CNVD
Maculopathy	20981449	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:291 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42386000-42397600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr15:42389600-42396400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr15:42393000-42396800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr15:42393000-42399600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr15:42393000-42399600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr15:42393000-42399800	Weak transcription	Right Atrium	heart
7	chr15:42393200-42396600	Weak transcription	Adipose Nuclei	Adipose
8	chr15:42393200-42397600	Weak transcription	Fetal Muscle Leg	muscle
9	chr15:42393200-42398000	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr15:42393200-42399000	Weak transcription	Esophagus	oesophagus
11	chr15:42393200-42399000	Weak transcription	Gastric	stomach
12	chr15:42393600-42397600	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr15:42394400-42397600	Weak transcription	Stomach Mucosa	stomach
14	chr15:42394600-42400200	Enhancers	Fetal Thymus	thymus
15	chr15:42395000-42397600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr15:42395200-42399600	Weak transcription	HMEC	breast
17	chr15:42395200-42404000	Weak transcription	Primary hematopoietic stem cells	blood
18	chr15:42395400-42396400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr15:42395400-42396400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr15:42395400-42396400	Weak transcription	Lung	lung
21	chr15:42395400-42399600	Weak transcription	HSMM	muscle
22	chr15:42395400-42399600	Weak transcription	NHEK	skin
23	chr15:42395400-42400600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr15:42396000-42397200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr15:42396200-42396600	Bivalent Enhancer	HepG2	liver
26	chr15:42396200-42398800	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr15:42396200-42404200	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr15:42396200-42405200	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr15:42396400-42396600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr15:42396400-42396600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr15:42396400-42396600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr15:42396400-42396600	Enhancers	Lung	lung
33	chr15:42396400-42396600	Enhancers	Sigmoid Colon	Sigmoid Colon
34	chr15:42396400-42397200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr15:42396400-42397200	Enhancers	Dnd41	blood
36	chr15:42396600-42396800	Enhancers	Adipose Nuclei	Adipose
37	chr15:42396600-42397600	Weak transcription	Lung	lung
38	chr15:42396800-42399200	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr15:42397200-42397600	Weak transcription	Dnd41	blood
40	chr15:42397400-42398200	Weak transcription	Brain Hippocampus Middle	brain
41	chr15:42397400-42400200	Enhancers	Brain Germinal Matrix	brain
42	chr15:42397600-42397800	Enhancers	Fetal Intestine Small	intestine
43	chr15:42397600-42397800	Enhancers	Stomach Mucosa	stomach
44	chr15:42397600-42397800	Enhancers	Dnd41	blood
45	chr15:42397600-42398200	Enhancers	Lung	lung
46	chr15:42397600-42398400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr15:42397600-42398600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr15:42397600-42398600	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr15:42397600-42399600	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr15:42397600-42400000	Enhancers	Fetal Muscle Trunk	muscle

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