Variant report

Variant	esv3490432
Chromosome Location	chr15:43148709-43190630
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:43169823..43171405-chr15:43172916..43175738,2	K562	blood:
2	chr15:43169823..43171405-chr15:43172916..43175738,2	K562	blood:

Extended variants
information (count: 1304 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:1304 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75240137	chr15:43148735-43148736	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs554798227	chr15:43148739-43148740	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs377712094	chr15:43148765-43148766	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528515375	chr15:43148766-43148767	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs551900965	chr15:43148770-43148771	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571721406	chr15:43148832-43148833	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181372902	chr15:43148834-43148835	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs199730368	chr15:43148900-43148901	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557554575	chr15:43148909-43148910	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185783638	chr15:43148910-43148911	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs189413093	chr15:43148946-43148947	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs181054440	chr15:43148987-43148988	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572788560	chr15:43149017-43149018	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs186367244	chr15:43149030-43149031	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs558134267	chr15:43149031-43149032	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs369000576	chr15:43149116-43149117	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs146081215	chr15:43149267-43149268	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561113063	chr15:43149290-43149291	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113324824	chr15:43149302-43149303	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574577892	chr15:43149324-43149325	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs115017949	chr15:43149337-43149338	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560231938	chr15:43149339-43149340	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532450592	chr15:43149473-43149474	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539744133	chr15:43149492-43149493	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191169517	chr15:43149508-43149509	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182936933	chr15:43149522-43149523	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550824288	chr15:43149531-43149532	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573411849	chr15:43149556-43149557	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs35430625	chr15:43149568-43149569	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112419923	chr15:43149571-43149572	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186108420	chr15:43149578-43149579	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370618714	chr15:43149736-43149737	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs140029491	chr15:43149751-43149752	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs191021682	chr15:43149770-43149771	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs576495184	chr15:43149835-43149836	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs183242059	chr15:43149907-43149908	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs79811470	chr15:43149967-43149968	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs566665843	chr15:43149973-43149974	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs188170571	chr15:43150027-43150028	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370592827	chr15:43150039-43150040	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs534984925	chr15:43150049-43150050	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192652599	chr15:43150146-43150147	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540006243	chr15:43150160-43150161	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560304087	chr15:43150161-43150162	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574854479	chr15:43150226-43150227	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs577175141	chr15:43150245-43150246	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541955414	chr15:43150266-43150267	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs146437594	chr15:43150281-43150282	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs574826901	chr15:43150283-43150284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546139622	chr15:43150305-43150306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	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
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:420 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43064800-43150800	Weak transcription	HSMM	muscle
2	chr15:43075600-43150800	Weak transcription	Colon Smooth Muscle	Colon
3	chr15:43075800-43159200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr15:43089800-43165200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr15:43094400-43163800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr15:43094600-43150800	Weak transcription	Aorta	Aorta
7	chr15:43095000-43165000	Weak transcription	Spleen	Spleen
8	chr15:43103000-43165400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr15:43103400-43173200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr15:43114800-43172000	Weak transcription	Pancreas	Pancrea
11	chr15:43119600-43168200	Weak transcription	Stomach Smooth Muscle	stomach
12	chr15:43119600-43172600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr15:43119800-43163200	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr15:43119800-43170200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr15:43120000-43151000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr15:43125200-43151400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr15:43125400-43173600	Weak transcription	Hela-S3	cervix
18	chr15:43126000-43150600	Weak transcription	HMEC	breast
19	chr15:43131000-43165200	Weak transcription	Thymus	Thymus
20	chr15:43131600-43171800	Weak transcription	Brain Anterior Caudate	brain
21	chr15:43131800-43150800	Weak transcription	Fetal Heart	heart
22	chr15:43132000-43186800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr15:43132200-43150000	Weak transcription	Placenta	Placenta
24	chr15:43132200-43150800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr15:43132200-43155600	Weak transcription	Liver	Liver
26	chr15:43132200-43162400	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr15:43132200-43166200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr15:43132400-43151600	Weak transcription	Brain Angular Gyrus	brain
29	chr15:43132400-43165400	Weak transcription	Fetal Muscle Trunk	muscle
30	chr15:43132400-43172800	Weak transcription	Ovary	ovary
31	chr15:43132600-43171200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr15:43136400-43151400	Weak transcription	Fetal Muscle Leg	muscle
33	chr15:43136600-43157000	Weak transcription	Adipose Nuclei	Adipose
34	chr15:43136600-43159400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr15:43136600-43167200	Weak transcription	Dnd41	blood
36	chr15:43136800-43149000	Weak transcription	Fetal Stomach	stomach
37	chr15:43136800-43149600	Weak transcription	Psoas Muscle	Psoas
38	chr15:43136800-43150600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr15:43136800-43151400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr15:43136800-43151600	Weak transcription	Fetal Brain Female	brain
41	chr15:43136800-43165200	Weak transcription	Brain Germinal Matrix	brain
42	chr15:43136800-43169200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr15:43136800-43169200	Weak transcription	Fetal Intestine Small	intestine
44	chr15:43136800-43182400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr15:43137000-43164000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr15:43137200-43150200	Weak transcription	NHEK	skin
47	chr15:43137200-43150600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr15:43138200-43150200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr15:43138200-43151400	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr15:43139400-43151400	Weak transcription	Esophagus	oesophagus

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