Variant report

Variant	esv10980
Chromosome Location	chr15:41423683-41445889
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	chr15:41407210..41409750-chr15:41424090..41425658,2	MCF-7	breast:
2	chr15:41246285..41249208-chr15:41442914..41444536,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000128965	chromatin interactions
ENSG00000128908	chromatin interactions

Extended variants
information (count: 827 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:827 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs367678562	chr15:41423695-41423696	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs559034166	chr15:41423726-41423727	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188885770	chr15:41423799-41423800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs545607777	chr15:41423862-41423863	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565406430	chr15:41423882-41423883	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531271023	chr15:41423885-41423886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190973150	chr15:41423897-41423898	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183109344	chr15:41423901-41423902	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371851171	chr15:41423904-41423905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs186683737	chr15:41423908-41423909	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs569489901	chr15:41423918-41423919	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113445206	chr15:41423954-41423955	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191090732	chr15:41423967-41423968	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566991335	chr15:41423977-41423978	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528238080	chr15:41423988-41423989	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551584258	chr15:41423989-41423990	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376041481	chr15:41424001-41424002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558261668	chr15:41424014-41424015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537395998	chr15:41424031-41424032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556527839	chr15:41424032-41424033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566884084	chr15:41424059-41424060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs150521101	chr15:41424127-41424128	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs573245988	chr15:41424130-41424131	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs572911184	chr15:41424241-41424242	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs545257861	chr15:41424242-41424243	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs540668634	chr15:41424272-41424273	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs74012223	chr15:41424276-41424277	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs549960083	chr15:41424277-41424278	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs575844988	chr15:41424308-41424309	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs544848327	chr15:41424342-41424343	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs561571028	chr15:41424410-41424411	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs113359110	chr15:41424414-41424415	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs111540517	chr15:41424481-41424482	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs36046988	chr15:41424504-41424505	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs540645227	chr15:41424545-41424546	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs184952187	chr15:41424654-41424655	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs149325274	chr15:41424672-41424673	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs551280177	chr15:41424702-41424703	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs571457804	chr15:41424717-41424718	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs530629605	chr15:41424835-41424836	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs550417332	chr15:41424844-41424845	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs371816799	chr15:41424878-41424879	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs535813613	chr15:41424913-41424914	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs188237171	chr15:41425059-41425060	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs147397504	chr15:41425061-41425062	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs117131777	chr15:41425066-41425067	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs553812278	chr15:41425073-41425074	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs192975840	chr15:41425139-41425140	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs575746190	chr15:41425156-41425157	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs545661831	chr15:41425164-41425165	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Acute lymphoblastic leukemia	18458336	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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41409600-41427600	Weak transcription	Hela-S3	cervix
2	chr15:41423200-41424000	Enhancers	Stomach Mucosa	stomach
3	chr15:41424000-41431000	Weak transcription	Stomach Mucosa	stomach
4	chr15:41424800-41425800	Enhancers	Fetal Kidney	kidney
5	chr15:41425600-41425800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr15:41427400-41428200	Enhancers	HepG2	liver
7	chr15:41427600-41427800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr15:41427600-41427800	Enhancers	Hela-S3	cervix
9	chr15:41427600-41428200	Enhancers	NHEK	skin
10	chr15:41427800-41431000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr15:41428200-41431000	Weak transcription	NHEK	skin
12	chr15:41429000-41431000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr15:41431000-41431200	Enhancers	NHEK	skin
14	chr15:41431000-41431600	Enhancers	HMEC	breast
15	chr15:41431000-41431800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr15:41431000-41431800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr15:41431000-41431800	Enhancers	Stomach Mucosa	stomach
18	chr15:41431200-41431800	Weak transcription	NHEK	skin
19	chr15:41431400-41431800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr15:41431400-41432000	Enhancers	Placenta	Placenta
21	chr15:41431800-41432000	Enhancers	NHEK	skin
22	chr15:41431800-41432400	Weak transcription	Stomach Mucosa	stomach
23	chr15:41431800-41434000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr15:41431800-41434400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr15:41434000-41434400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr15:41434000-41434600	Enhancers	Hela-S3	cervix
27	chr15:41434400-41434600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr15:41434400-41434600	Enhancers	Stomach Mucosa	stomach
29	chr15:41434600-41435000	Flanking Active TSS	Hela-S3	cervix
30	chr15:41435000-41435400	Enhancers	Hela-S3	cervix
31	chr15:41435200-41436200	Enhancers	Liver	Liver
32	chr15:41435800-41437200	Enhancers	HepG2	liver
33	chr15:41436200-41437000	Weak transcription	Liver	Liver
34	chr15:41437000-41437600	Enhancers	Liver	Liver
35	chr15:41437200-41440600	Weak transcription	HepG2	liver
36	chr15:41437600-41441400	Weak transcription	Liver	Liver
37	chr15:41440600-41440800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr15:41440600-41440800	Enhancers	NHLF	lung
39	chr15:41440600-41441000	Enhancers	HepG2	liver
40	chr15:41440800-41442600	Weak transcription	NHLF	lung
41	chr15:41441000-41441800	Active TSS	HepG2	liver
42	chr15:41441400-41443000	Enhancers	Liver	Liver
43	chr15:41441400-41443600	Enhancers	NHEK	skin
44	chr15:41441600-41443600	Enhancers	Hela-S3	cervix
45	chr15:41441800-41442800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
46	chr15:41441800-41443000	Enhancers	HepG2	liver
47	chr15:41441800-41443200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr15:41441800-41443200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr15:41442000-41443000	Enhancers	Fetal Kidney	kidney
50	chr15:41442400-41443200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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