Variant report

Variant	nsv524596
Chromosome Location	chr15:50944589-50946761
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:50939543..50942459-chr15:50946221..50948158,2	K562	blood:
2	chr15:50944212..50946075-chr15:50977425..50980194,3	K562	blood:
3	chr15:50916244..50918510-chr15:50943858..50945461,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000092439	chromatin interactions

Extended variants
information (count: 103 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9806676	chr15:50944589-50944590	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs9806668	chr15:50944614-50944615	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs72740456	chr15:50944626-50944627	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs78876651	chr15:50944629-50944630	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs142318336	chr15:50944634-50944635	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs529300417	chr15:50944641-50944642	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs183593003	chr15:50944712-50944713	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs36065632	chr15:50944722-50944723	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs147107411	chr15:50944723-50944724	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs567493595	chr15:50944731-50944732	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs71127103	chr15:50944739-50944740	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs548762937	chr15:50944740-50944741	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs538072911	chr15:50944752-50944753	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs545548824	chr15:50944853-50944854	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs141785189	chr15:50944854-50944855	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs201066892	chr15:50944855-50944856	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs191003474	chr15:50944856-50944857	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs571261435	chr15:50944868-50944869	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs538622889	chr15:50944904-50944905	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs75858935	chr15:50944939-50944940	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs79298515	chr15:50944940-50944941	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs536575701	chr15:50944968-50944969	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs180863002	chr15:50945008-50945009	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs79705780	chr15:50945037-50945038	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs184727000	chr15:50945038-50945039	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs368450744	chr15:50945051-50945052	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs367569140	chr15:50945081-50945082	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs7179641	chr15:50945091-50945092	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs578066868	chr15:50945123-50945124	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs143237454	chr15:50945206-50945207	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs28459265	chr15:50945213-50945214	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs7179565	chr15:50945272-50945273	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs114665165	chr15:50945273-50945274	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs189654586	chr15:50945302-50945303	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs62017199	chr15:50945354-50945355	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs550151340	chr15:50945370-50945371	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs140375977	chr15:50945374-50945375	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs150381396	chr15:50945419-50945420	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs547392478	chr15:50945426-50945427	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs566966026	chr15:50945437-50945438	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs565650670	chr15:50945463-50945464	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs181715541	chr15:50945481-50945482	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs12901621	chr15:50945531-50945532	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs8023582	chr15:50945537-50945538	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs74843157	chr15:50945602-50945603	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs540041864	chr15:50945663-50945664	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs373531427	chr15:50945713-50945714	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs186908696	chr15:50945738-50945739	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs578033535	chr15:50945740-50945741	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs192711501	chr15:50945742-50945743	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
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
Bipolar disorder	19114987	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:229 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50846000-50950800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:50854600-50957400	Strong transcription	Primary T helper cells fromperipheralblood	blood
3	chr15:50869800-50967600	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr15:50871600-50957600	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr15:50894400-50955600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr15:50895000-50954400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr15:50895200-50959000	Strong transcription	Liver	Liver
8	chr15:50895400-50944800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr15:50906400-50977400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr15:50908000-50961800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr15:50916000-50946200	Strong transcription	Primary B cells from peripheral blood	blood
12	chr15:50916000-50959200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr15:50917400-50946600	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr15:50917600-50957400	Strong transcription	Fetal Intestine Large	intestine
15	chr15:50918600-50951600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr15:50918800-50950000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr15:50918800-50951200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr15:50919200-50967800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr15:50921600-50967600	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr15:50923400-50977600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr15:50923600-50977600	Weak transcription	Brain Substantia Nigra	brain
22	chr15:50925400-50948600	Weak transcription	NHLF	lung
23	chr15:50925800-50959000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr15:50926200-50950800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr15:50926200-50951400	Strong transcription	Left Ventricle	heart
26	chr15:50926200-50959200	Strong transcription	Fetal Intestine Small	intestine
27	chr15:50926200-50959600	Strong transcription	Fetal Stomach	stomach
28	chr15:50927400-50950200	Strong transcription	Fetal Thymus	thymus
29	chr15:50927600-50946200	Strong transcription	GM12878-XiMat	blood
30	chr15:50928000-50945000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr15:50928800-50958400	Weak transcription	Esophagus	oesophagus
32	chr15:50929200-50969200	Weak transcription	Small Intestine	intestine
33	chr15:50930000-50968000	Weak transcription	Fetal Kidney	kidney
34	chr15:50932400-50952000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr15:50933200-50945400	Weak transcription	Stomach Mucosa	stomach
36	chr15:50934600-50951600	Weak transcription	Colon Smooth Muscle	Colon
37	chr15:50934800-50945800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr15:50935000-50975800	Weak transcription	Pancreas	Pancrea
39	chr15:50935200-50967600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr15:50935600-50945000	Weak transcription	Brain Cingulate Gyrus	brain
41	chr15:50935800-50947800	Weak transcription	Brain Anterior Caudate	brain
42	chr15:50936600-50947600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr15:50937200-50946200	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr15:50937200-50956000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr15:50937800-50946200	Strong transcription	Primary hematopoietic stem cells	blood
46	chr15:50937800-50946800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr15:50937800-50951000	Strong transcription	Osteobl	bone
48	chr15:50938000-50954800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr15:50938200-50946200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr15:50938200-50949200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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