Variant report

Variant	nsv819649
Chromosome Location	chr15:50581839-50584093
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:50566343..50568625-chr15:50580791..50582388,2	MCF-7	breast:
2	chr15:50580672..50582881-chr15:50647301..50648909,2	K562	blood:
3	chr15:50569600..50571427-chr15:50584025..50585795,2	K562	blood:
4	chr15:50474713..50476584-chr15:50580413..50582101,2	MCF-7	breast:
5	chr15:50581897..50584737-chr15:50644963..50647895,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104043	chromatin interactions
ENSG00000104064	chromatin interactions
ENSG00000244879	chromatin interactions

Extended variants
information (count: 79 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:79 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374196509	chr15:50581870-50581871	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs74642872	chr15:50581871-50581872	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs77085532	chr15:50581886-50581887	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs529357301	chr15:50581887-50581888	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs576128696	chr15:50581905-50581906	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs78285271	chr15:50581906-50581907	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs190731473	chr15:50581910-50581911	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs532535748	chr15:50581928-50581929	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs4143162	chr15:50581946-50581947	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs45521237	chr15:50581962-50581963	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs45452696	chr15:50581970-50581971	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs140176493	chr15:50581976-50581977	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs547797230	chr15:50581977-50581978	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs10645125	chr15:50581982-50581983	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs59001156	chr15:50582027-50582028	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs182970837	chr15:50582041-50582042	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs529666773	chr15:50582053-50582054	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs548159867	chr15:50582069-50582070	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs187976418	chr15:50582070-50582071	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs537128174	chr15:50582133-50582134	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs552266691	chr15:50582140-50582141	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs143923709	chr15:50582196-50582197	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs534766157	chr15:50582207-50582208	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs191920642	chr15:50582218-50582219	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs574663863	chr15:50582297-50582298	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs138488887	chr15:50582313-50582314	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs554929666	chr15:50582382-50582383	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs576166312	chr15:50582416-50582417	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs543527727	chr15:50582480-50582481	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs549415223	chr15:50582483-50582484	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs565940276	chr15:50582487-50582488	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs376057763	chr15:50582509-50582510	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs200412161	chr15:50582545-50582546	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs541574411	chr15:50582573-50582574	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs182682709	chr15:50582588-50582589	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs530398298	chr15:50582602-50582603	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs534986617	chr15:50582696-50582697	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs547910715	chr15:50582752-50582753	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs201704921	chr15:50582788-50582789	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs552117758	chr15:50582962-50582963	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs563286636	chr15:50583029-50583030	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs530489819	chr15:50583087-50583088	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs549805448	chr15:50583088-50583089	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs552302884	chr15:50583140-50583141	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs570520151	chr15:50583154-50583155	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs534553362	chr15:50583164-50583165	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs187411520	chr15:50583165-50583166	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs568294006	chr15:50583171-50583172	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs370513194	chr15:50583178-50583179	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs192208481	chr15:50583183-50583184	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	22032731	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Myelofibrosis	22110671	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:171 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50567600-50593000	Weak transcription	NHDF-Ad	bronchial
2	chr15:50568000-50593400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr15:50568200-50592000	Weak transcription	NHLF	lung
4	chr15:50568800-50582000	Weak transcription	Stomach Mucosa	stomach
5	chr15:50568800-50591800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr15:50568800-50592200	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr15:50568800-50599200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr15:50569200-50591800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr15:50569200-50592200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr15:50569800-50585400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr15:50570000-50591800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr15:50570200-50591800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr15:50570400-50606600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr15:50570800-50591800	Weak transcription	HSMMtube	muscle
15	chr15:50570800-50600600	Weak transcription	Spleen	Spleen
16	chr15:50571000-50592000	Weak transcription	Right Ventricle	heart
17	chr15:50571200-50593000	Weak transcription	Fetal Kidney	kidney
18	chr15:50572000-50589600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr15:50572800-50593200	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr15:50573000-50592000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr15:50573400-50590200	Weak transcription	HMEC	breast
22	chr15:50574400-50602000	Weak transcription	Small Intestine	intestine
23	chr15:50574800-50592000	Weak transcription	Colon Smooth Muscle	Colon
24	chr15:50575000-50588200	Weak transcription	Hela-S3	cervix
25	chr15:50575000-50589800	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr15:50575200-50583800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr15:50575200-50601000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr15:50576000-50583400	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr15:50576000-50583400	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr15:50576000-50583600	Strong transcription	Primary B cells from peripheral blood	blood
31	chr15:50576000-50585200	Strong transcription	Liver	Liver
32	chr15:50576000-50585800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr15:50576000-50590200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr15:50576000-50592000	Weak transcription	Brain Anterior Caudate	brain
35	chr15:50576200-50582400	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr15:50576200-50582800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr15:50576200-50583000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr15:50576200-50583200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr15:50576200-50583600	Strong transcription	Primary hematopoietic stem cells	blood
40	chr15:50576200-50585000	Strong transcription	Fetal Thymus	thymus
41	chr15:50576200-50585600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr15:50576400-50583400	Strong transcription	Dnd41	blood
43	chr15:50576600-50583400	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr15:50576600-50599000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr15:50577400-50582000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr15:50577600-50582400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr15:50577600-50583400	Strong transcription	Adipose Nuclei	Adipose
48	chr15:50577800-50582400	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr15:50578200-50583200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr15:50578200-50592000	Weak transcription	NH-A	brain

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