Variant report

Variant	esv990867
Chromosome Location	chr15:39006356-39007352
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529243481	chr15:39006390-39006391	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs541221117	chr15:39006391-39006392	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs146471261	chr15:39006417-39006418	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs367995947	chr15:39006433-39006434	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs540753284	chr15:39006467-39006468	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs569753178	chr15:39006488-39006489	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs530378922	chr15:39006507-39006508	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs59291296	chr15:39006514-39006515	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs201487972	chr15:39006522-39006523	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs10642915	chr15:39006526-39006527	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs191640958	chr15:39006546-39006547	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs67711260	chr15:39006632-39006633	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs34442748	chr15:39006633-39006634	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs398057622	chr15:39006636-39006637	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs2624277	chr15:39006658-39006659	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs61521939	chr15:39006670-39006671	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs565969405	chr15:39006678-39006679	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs531282152	chr15:39006750-39006751	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs550873050	chr15:39006754-39006755	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs539663074	chr15:39006757-39006758	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs28520386	chr15:39006776-39006777	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs12916021	chr15:39006798-39006799	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs576486990	chr15:39006859-39006860	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs376327974	chr15:39006870-39006871	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs537039785	chr15:39006915-39006916	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs10569927	chr15:39006928-39006929	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs59536560	chr15:39006929-39006930	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs2643206	chr15:39006933-39006934	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs143445493	chr15:39007048-39007049	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs34700084	chr15:39007170-39007171	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs2643204	chr15:39007171-39007172	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs577884179	chr15:39007194-39007195	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs78917898	chr15:39007213-39007214	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530162502	chr15:39007232-39007233	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs2643203	chr15:39007273-39007274	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs530671970	chr15:39007277-39007278	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190153812	chr15:39007315-39007316	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560578527	chr15:39007338-39007339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs74400704	chr15:39007344-39007345	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547653470	chr15:39007350-39007351	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
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:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:39001200-39006600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr15:39001200-39006600	Weak transcription	Colon Smooth Muscle	Colon
3	chr15:39001200-39006600	Weak transcription	Stomach Smooth Muscle	stomach
4	chr15:39001200-39006800	Weak transcription	Fetal Brain Male	brain
5	chr15:39001400-39006400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr15:39005600-39008400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr15:39005600-39008400	Enhancers	HMEC	breast
8	chr15:39005600-39008600	Enhancers	HSMM	muscle
9	chr15:39005600-39008800	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr15:39005800-39006400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr15:39005800-39006600	Enhancers	NHLF	lung
12	chr15:39005800-39006600	Enhancers	Osteobl	bone
13	chr15:39005800-39007200	Enhancers	NHDF-Ad	bronchial
14	chr15:39005800-39008000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr15:39005800-39008400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr15:39006000-39006400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr15:39006000-39006400	Enhancers	NH-A	brain
18	chr15:39006000-39007000	Enhancers	HSMMtube	muscle
19	chr15:39006000-39007200	Enhancers	HUVEC	blood vessel
20	chr15:39006000-39007400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr15:39006000-39007800	Enhancers	Muscle Satellite Cultured Cells	--
22	chr15:39006000-39008000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr15:39006200-39006600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr15:39006400-39007200	Enhancers	Rectal Smooth Muscle	rectum
25	chr15:39006400-39007200	Flanking Active TSS	NH-A	brain
26	chr15:39006400-39007600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr15:39006400-39008000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr15:39006400-39008000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr15:39006400-39009000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr15:39006400-39025000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr15:39006600-39007000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr15:39006600-39007000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr15:39006600-39007000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr15:39006600-39007000	Enhancers	Stomach Smooth Muscle	stomach
35	chr15:39006600-39007000	Flanking Active TSS	NHLF	lung
36	chr15:39006600-39007000	Flanking Active TSS	Osteobl	bone
37	chr15:39006600-39007200	Enhancers	Colon Smooth Muscle	Colon
38	chr15:39006600-39007200	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr15:39006600-39007400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr15:39006600-39007600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr15:39006800-39007200	Enhancers	Fetal Brain Male	brain
42	chr15:39006800-39009000	Enhancers	NHEK	skin
43	chr15:39007000-39008200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr15:39007000-39008200	Enhancers	NHLF	lung
45	chr15:39007000-39008400	Enhancers	Osteobl	bone
46	chr15:39007000-39013400	Weak transcription	HSMMtube	muscle
47	chr15:39007200-39008200	Enhancers	NH-A	brain

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