Variant report

Variant	esv3424205
Chromosome Location	chr15:41586900-41587742
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	chr15:41587115..41589389-chr15:41693080..41695951,2	MCF-7	breast:
2	chr15:41581933..41584889-chr15:41587370..41590303,3	K562	blood:

Variant related genes	Relation type
ENSG00000137806	chromatin interactions

Extended variants
information (count: 33 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112672376	chr15:41586909-41586910	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs71656122	chr15:41586910-41586911	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs200609051	chr15:41586913-41586914	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs146164680	chr15:41586944-41586945	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs7165396	chr15:41586947-41586948	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs559507553	chr15:41587008-41587009	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs138960484	chr15:41587025-41587026	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs371197690	chr15:41587046-41587047	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs78568082	chr15:41587047-41587048	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs565441289	chr15:41587103-41587104	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs149404119	chr15:41587127-41587128	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs112666651	chr15:41587135-41587136	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs12902499	chr15:41587143-41587144	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs201594491	chr15:41587160-41587161	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs111271742	chr15:41587256-41587257	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs564336331	chr15:41587316-41587317	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs567846958	chr15:41587417-41587418	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs144472710	chr15:41587421-41587422	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs546559732	chr15:41587446-41587447	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs190100233	chr15:41587455-41587456	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs538706783	chr15:41587458-41587459	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs558616475	chr15:41587465-41587466	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs577814219	chr15:41587517-41587518	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs148435413	chr15:41587522-41587523	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs375425256	chr15:41587555-41587556	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs376447810	chr15:41587601-41587602	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs192026577	chr15:41587617-41587618	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs184216260	chr15:41587630-41587631	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs566639914	chr15:41587684-41587685	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs78713170	chr15:41587704-41587705	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs78064769	chr15:41587705-41587706	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs34592344	chr15:41587722-41587723	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs56753864	chr15:41587740-41587741	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	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
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
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Cancer	21129771	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21045282	CNVD
Breast cancer	22032731	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelofibrosis	22110671	CNVD
Maculopathy	20981449	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:143 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41577400-41610600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:41577600-41606400	Weak transcription	Stomach Mucosa	stomach
3	chr15:41577800-41589000	Weak transcription	Esophagus	oesophagus
4	chr15:41577800-41591600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr15:41578000-41588400	Weak transcription	Right Atrium	heart
6	chr15:41578000-41591600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr15:41578200-41591800	Strong transcription	Fetal Stomach	stomach
8	chr15:41578200-41592600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr15:41578400-41592600	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr15:41578800-41587800	Strong transcription	Fetal Muscle Leg	muscle
11	chr15:41578800-41591800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr15:41579200-41593200	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr15:41579200-41612400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr15:41580000-41592600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr15:41580600-41603200	Weak transcription	Psoas Muscle	Psoas
16	chr15:41581000-41588400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr15:41581000-41590000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr15:41581000-41593200	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr15:41581200-41587000	Weak transcription	Brain Germinal Matrix	brain
20	chr15:41581200-41587600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr15:41581200-41588200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr15:41581200-41589000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr15:41581200-41589000	Weak transcription	Ovary	ovary
24	chr15:41581200-41589000	Weak transcription	Spleen	Spleen
25	chr15:41581200-41589000	Weak transcription	HSMMtube	muscle
26	chr15:41581200-41589200	Weak transcription	Colonic Mucosa	Colon
27	chr15:41581200-41589200	Weak transcription	Pancreas	Pancrea
28	chr15:41581200-41592200	Weak transcription	Brain Angular Gyrus	brain
29	chr15:41581200-41592200	Weak transcription	Rectal Smooth Muscle	rectum
30	chr15:41581200-41592400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr15:41581200-41593000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr15:41581200-41595200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr15:41581200-41596000	Weak transcription	Small Intestine	intestine
34	chr15:41581200-41598400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr15:41581200-41601400	Weak transcription	NHDF-Ad	bronchial
36	chr15:41581200-41602200	Weak transcription	Brain Hippocampus Middle	brain
37	chr15:41581200-41602600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr15:41581200-41604800	Weak transcription	Gastric	stomach
39	chr15:41581200-41605000	Weak transcription	Brain Substantia Nigra	brain
40	chr15:41581200-41607000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr15:41581200-41609600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr15:41581200-41623600	Weak transcription	Fetal Brain Male	brain
43	chr15:41581400-41589200	Weak transcription	HUVEC	blood vessel
44	chr15:41581400-41605000	Weak transcription	HMEC	breast
45	chr15:41581400-41610400	Weak transcription	NHLF	lung
46	chr15:41581600-41588400	Strong transcription	Dnd41	blood
47	chr15:41581600-41589000	Weak transcription	Brain Anterior Caudate	brain
48	chr15:41581600-41589200	Weak transcription	Placenta	Placenta
49	chr15:41581600-41589400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr15:41581600-41589800	Weak transcription	Muscle Satellite Cultured Cells	--

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