Variant report

Variant	esv3434528
Chromosome Location	chr15:38917868-38918082
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	chr15:38900766..38902547-chr15:38915124..38917930,2	MCF-7	breast:
2	chr15:38916571..38918602-chr15:38924024..38925641,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536758590	chr15:38917878-38917879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs555871585	chr15:38917959-38917960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs140623867	chr15:38917981-38917982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575939466	chr15:38917992-38917993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs72729321	chr15:38918011-38918012	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs56844466	chr15:38918015-38918016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs883625	chr15:38918032-38918033	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs144485704	chr15:38918033-38918034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs189493172	chr15:38918053-38918054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs576662906	chr15:38918056-38918057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs147668038	chr15:38918070-38918071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs140670645	chr15:38918077-38918078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	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
Autism	19204725	CNVD
Schizophrenia	19204725	CNVD
Schizophrenia	19149910	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	17440070	CNVD
Basal cell lymphoma	17053054	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21129771	CNVD
Breast cancer	21045282	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	22032731	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:38910800-38918000	Weak transcription	Left Ventricle	heart
2	chr15:38913400-38918200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr15:38913400-38918400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr15:38913400-38918400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr15:38913400-38918600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr15:38913600-38918000	Weak transcription	Fetal Heart	heart
7	chr15:38913600-38918000	Weak transcription	Dnd41	blood
8	chr15:38913600-38918200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr15:38913600-38918200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr15:38913600-38918200	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr15:38913600-38918400	Weak transcription	Primary T cells from cord blood	blood
12	chr15:38913600-38918400	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr15:38913800-38918200	Weak transcription	Thymus	Thymus
14	chr15:38913800-38918400	Weak transcription	Primary B cells from peripheral blood	blood
15	chr15:38913800-38918400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr15:38913800-38918600	Weak transcription	Fetal Kidney	kidney
17	chr15:38913800-38919200	Weak transcription	Duodenum Mucosa	Duodenum
18	chr15:38914200-38918000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr15:38914400-38918000	Weak transcription	Fetal Brain Male	brain
20	chr15:38914600-38918400	Weak transcription	Fetal Brain Female	brain
21	chr15:38914800-38922000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr15:38916000-38918200	Weak transcription	Fetal Thymus	thymus
23	chr15:38916200-38918200	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr15:38916400-38918400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr15:38916400-38923000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr15:38916800-38918000	Weak transcription	Placenta	Placenta
27	chr15:38916800-38918600	Weak transcription	Fetal Muscle Leg	muscle
28	chr15:38916800-38922800	Weak transcription	GM12878-XiMat	blood
29	chr15:38917000-38918200	Weak transcription	Fetal Intestine Small	intestine
30	chr15:38917200-38918200	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr15:38917200-38918200	Weak transcription	Fetal Intestine Large	intestine
32	chr15:38917200-38918200	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr15:38918000-38918200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr15:38918000-38918400	Enhancers	Left Ventricle	heart
35	chr15:38918000-38919400	Enhancers	Dnd41	blood
36	chr15:38918000-38920400	Enhancers	Fetal Brain Male	brain
37	chr15:38918000-38920600	Enhancers	Fetal Heart	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links