Variant report

Variant	esv3311276
Chromosome Location	chr15:59551410-59551858
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568523291	chr15:59551410-59551411	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs533037224	chr15:59551412-59551413	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs28408976	chr15:59551469-59551470	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs569808373	chr15:59551471-59551472	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs182115685	chr15:59551488-59551489	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs199601627	chr15:59551497-59551498	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs114688986	chr15:59551534-59551535	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs567328792	chr15:59551535-59551536	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs534660835	chr15:59551540-59551541	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533068250	chr15:59551565-59551566	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs6494091	chr15:59551624-59551625	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs144529541	chr15:59551635-59551636	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs545463274	chr15:59551673-59551674	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs147812322	chr15:59551739-59551740	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs575761098	chr15:59551750-59551751	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs375362825	chr15:59551766-59551767	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs561517988	chr15:59551791-59551792	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs74358821	chr15:59551807-59551808	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs16941215	chr15:59551852-59551853	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
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
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Mental retardation	17124404	CNVD
Gastrointestinal stromal cancer	20877625	CNVD

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59515800-59566600	Weak transcription	Pancreas	Pancrea
2	chr15:59517800-59564200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr15:59521600-59566400	Weak transcription	Psoas Muscle	Psoas
4	chr15:59524600-59569200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr15:59524600-59574600	Weak transcription	Lung	lung
6	chr15:59525200-59554000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr15:59525200-59566600	Weak transcription	Small Intestine	intestine
8	chr15:59525200-59582000	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr15:59530600-59558200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr15:59530600-59568000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr15:59530800-59569000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr15:59533400-59559800	Weak transcription	NHLF	lung
13	chr15:59533400-59564000	Weak transcription	Ovary	ovary
14	chr15:59533400-59566800	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr15:59536600-59559000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr15:59540000-59560000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr15:59540000-59568800	Weak transcription	Fetal Kidney	kidney
18	chr15:59540400-59552600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr15:59540600-59561400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr15:59541000-59554000	Weak transcription	Right Ventricle	heart
21	chr15:59541000-59558000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr15:59541200-59566400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr15:59542400-59551600	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr15:59542400-59568200	Weak transcription	Gastric	stomach
25	chr15:59542600-59559800	Weak transcription	Spleen	Spleen
26	chr15:59542600-59563000	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr15:59542800-59565400	Weak transcription	Left Ventricle	heart
28	chr15:59543200-59552400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr15:59543200-59553600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr15:59543200-59568200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr15:59544000-59566200	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr15:59544600-59582400	Weak transcription	Primary B cells from cord blood	blood
33	chr15:59544800-59552800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr15:59545000-59560000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr15:59545200-59557000	Weak transcription	Primary B cells from peripheral blood	blood
36	chr15:59546400-59552800	Strong transcription	Osteobl	bone
37	chr15:59546600-59551600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr15:59546800-59551600	Strong transcription	GM12878-XiMat	blood
39	chr15:59547400-59559600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr15:59547400-59564000	Weak transcription	Fetal Stomach	stomach
41	chr15:59547400-59587000	Weak transcription	Stomach Smooth Muscle	stomach
42	chr15:59547800-59552600	Strong transcription	HMEC	breast
43	chr15:59548000-59552200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr15:59548200-59559600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr15:59548200-59560600	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr15:59548200-59566400	Weak transcription	Aorta	Aorta
47	chr15:59548200-59567800	Weak transcription	Fetal Heart	heart
48	chr15:59548600-59558200	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr15:59548600-59558400	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr15:59548600-59560000	Weak transcription	NH-A	brain

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