Variant report

Variant	nsv934078
Chromosome Location	chr15:43335943-43341130
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:43336054..43338771-chr15:43342997..43344575,2	MCF-7	breast:
2	chr15:43327543..43330321-chr15:43334414..43337253,2	MCF-7	breast:
3	chr15:43337776..43340565-chr15:43396734..43398497,2	K562	blood:
4	chr15:43325373..43328292-chr15:43334536..43336063,2	K562	blood:
5	chr15:43326792..43329076-chr15:43333977..43336036,2	K562	blood:
6	chr15:43339146..43340895-chr15:43431393..43434266,2	K562	blood:

Variant related genes	Relation type
ENSG00000159459	chromatin interactions

Extended variants
information (count: 173 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:173 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556863773	chr15:43335976-43335977	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs555223047	chr15:43335980-43335981	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs369638974	chr15:43336132-43336133	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs141288226	chr15:43336134-43336135	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs73413063	chr15:43336160-43336161	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs562107465	chr15:43336195-43336196	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs145010389	chr15:43336256-43336257	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs541543046	chr15:43336269-43336270	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs138794882	chr15:43336276-43336277	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs533250299	chr15:43336277-43336278	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs563815077	chr15:43336279-43336280	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs189908149	chr15:43336291-43336292	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs1462856	chr15:43336344-43336345	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs546273363	chr15:43336369-43336370	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs74828696	chr15:43336391-43336392	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs549224110	chr15:43336416-43336417	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs565339682	chr15:43336424-43336425	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs149433671	chr15:43336466-43336467	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs557447260	chr15:43336469-43336470	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs571353365	chr15:43336476-43336477	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs536728082	chr15:43336478-43336479	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs557168338	chr15:43336486-43336487	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs181821281	chr15:43336543-43336544	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs148164076	chr15:43336568-43336569	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs141964138	chr15:43336575-43336576	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs76023577	chr15:43336578-43336579	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs572498055	chr15:43336591-43336592	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs568467135	chr15:43336593-43336594	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs541469292	chr15:43336623-43336624	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs564298382	chr15:43336630-43336631	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs533513639	chr15:43336635-43336636	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs2412751	chr15:43336670-43336671	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs563914765	chr15:43336680-43336681	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs529398630	chr15:43336727-43336728	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs186415912	chr15:43336746-43336747	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs539154338	chr15:43336761-43336762	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs528745816	chr15:43336770-43336771	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs557418862	chr15:43336773-43336774	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs7176957	chr15:43336802-43336803	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs191456147	chr15:43336859-43336860	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs537193110	chr15:43336874-43336875	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs528679320	chr15:43336904-43336905	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs567475936	chr15:43336935-43336936	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs536426643	chr15:43336950-43336951	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs553185664	chr15:43336954-43336955	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs575911207	chr15:43337011-43337012	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs573199886	chr15:43337016-43337017	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs538929786	chr15:43337019-43337020	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs147293088	chr15:43337024-43337025	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs368978101	chr15:43337048-43337049	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Intellectual disability	21811512	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:230 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43232000-43362800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr15:43269200-43397200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr15:43287400-43346000	Weak transcription	A549	lung
4	chr15:43297400-43348000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr15:43298600-43346200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr15:43298800-43346000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr15:43299400-43346000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr15:43301800-43343800	Weak transcription	Psoas Muscle	Psoas
9	chr15:43301800-43345800	Weak transcription	Colonic Mucosa	Colon
10	chr15:43301800-43345800	Weak transcription	Pancreas	Pancrea
11	chr15:43301800-43385800	Weak transcription	Gastric	stomach
12	chr15:43303400-43345800	Weak transcription	Aorta	Aorta
13	chr15:43303400-43397400	Weak transcription	Esophagus	oesophagus
14	chr15:43313200-43339400	Weak transcription	Right Ventricle	heart
15	chr15:43317200-43346200	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr15:43317400-43338000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr15:43322000-43346200	Weak transcription	NHLF	lung
18	chr15:43322600-43376200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr15:43323200-43342800	Weak transcription	Fetal Brain Male	brain
20	chr15:43329600-43337400	Weak transcription	Lung	lung
21	chr15:43330400-43337600	Weak transcription	Brain Angular Gyrus	brain
22	chr15:43330800-43337600	Weak transcription	NHEK	skin
23	chr15:43333000-43336400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
24	chr15:43333000-43340600	Strong transcription	Duodenum Mucosa	Duodenum
25	chr15:43333000-43356200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr15:43333000-43367400	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr15:43333000-43367400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr15:43333400-43339800	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr15:43333400-43341200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr15:43333400-43342800	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr15:43333400-43343000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr15:43333400-43355000	Strong transcription	Placenta	Placenta
33	chr15:43333400-43355600	Strong transcription	Fetal Intestine Large	intestine
34	chr15:43333400-43355800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr15:43333400-43367200	Strong transcription	Primary B cells from peripheral blood	blood
36	chr15:43333400-43367400	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr15:43333400-43367400	Strong transcription	Adipose Nuclei	Adipose
38	chr15:43333600-43336000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr15:43333600-43336200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr15:43333600-43336600	Strong transcription	Fetal Muscle Trunk	muscle
41	chr15:43333600-43338000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr15:43333600-43340000	Strong transcription	Fetal Brain Female	brain
43	chr15:43333600-43342600	Strong transcription	Fetal Muscle Leg	muscle
44	chr15:43333600-43355000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr15:43333600-43355000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr15:43333600-43355600	Strong transcription	Primary B cells from cord blood	blood
47	chr15:43333600-43355800	Strong transcription	Fetal Thymus	thymus
48	chr15:43333600-43356400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr15:43333600-43356600	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr15:43333600-43363200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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