Variant report

Variant	esv2763091
Chromosome Location	chr15:33435045-33439414
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	chr15:33436951..33439395-chr15:33484017..33486635,2	MCF-7	breast:
2	chr15:33425198..33426849-chr15:33434224..33436145,2	K562	blood:

Extended variants
information (count: 181 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:181 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2468751	chr15:33435045-33435046	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs2444969	chr15:33435073-33435074	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs542312470	chr15:33435087-33435088	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs560380865	chr15:33435099-33435100	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs572641648	chr15:33435159-33435160	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs190748898	chr15:33435160-33435161	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs527843717	chr15:33435166-33435167	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs377640865	chr15:33435242-33435243	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs2444970	chr15:33435257-33435258	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs150365573	chr15:33435284-33435285	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs113371595	chr15:33435287-33435288	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs562144103	chr15:33435291-33435292	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs2444971	chr15:33435305-33435306	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs2468752	chr15:33435366-33435367	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs17235763	chr15:33435377-33435378	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs534022099	chr15:33435411-33435412	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs552111800	chr15:33435441-33435442	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs181902319	chr15:33435464-33435465	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs570629904	chr15:33435483-33435484	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs2444972	chr15:33435493-33435494	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs556450814	chr15:33435521-33435522	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs146485952	chr15:33435545-33435546	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs2468753	chr15:33435576-33435577	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs554276735	chr15:33435606-33435607	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs572469015	chr15:33435660-33435661	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs111674838	chr15:33435742-33435743	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs557937987	chr15:33435782-33435783	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs34136327	chr15:33435789-33435790	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs576182578	chr15:33435889-33435890	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs2444973	chr15:33435942-33435943	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs186542790	chr15:33435960-33435961	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs529725686	chr15:33435987-33435988	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs2444974	chr15:33435998-33435999	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs144765342	chr15:33436003-33436004	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs192075306	chr15:33436031-33436032	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs552211300	chr15:33436032-33436033	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs7162655	chr15:33436065-33436066	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs77513182	chr15:33436170-33436171	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs550140490	chr15:33436172-33436173	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs2444975	chr15:33436179-33436180	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs535871597	chr15:33436230-33436231	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs553893411	chr15:33436248-33436249	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs566023435	chr15:33436283-33436284	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs182954543	chr15:33436286-33436287	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs2444976	chr15:33436315-33436316	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs149264389	chr15:33436323-33436324	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs557558451	chr15:33436343-33436344	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs188404586	chr15:33436356-33436357	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs143455083	chr15:33436415-33436416	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs574275140	chr15:33436442-33436443	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Hodgkin''s lymphoma	18641027	CNVD
Melanoma	18172304	CNVD
Autism	17322880	CNVD
Prader-willi syndrome	19329560	CNVD
Autism	17999366	CNVD
Autism	17901113	CNVD
Neurodevelopmental disorder	17015230	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Mental retardation	18923513	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
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Abnormal corpus callosum	21572526	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
Autism	19521722	CNVD
Bipolar disorder	19114987	CNVD
Epilepsy	19521722	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	19521646	CNVD
Autism	19050728	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18668039	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	19571808	CNVD
Velocardiofacial syndrome	19329560	CNVD
Schizophrenia	19443537	CNVD
Epilepsy	20923578	CNVD
Autism	19955444	CNVD
Autism	20964600	CNVD
Schizophrenia	19955444	CNVD
Olfactory neuroblastoma	18408657	CNVD
Legius syndrome	19443465	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	22237106	CNVD

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:33424400-33440600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr15:33427800-33445400	Weak transcription	Right Atrium	heart
3	chr15:33433600-33436200	Enhancers	Fetal Intestine Small	intestine
4	chr15:33433600-33436600	Enhancers	Fetal Intestine Large	intestine
5	chr15:33434400-33435800	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr15:33434400-33436000	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr15:33434600-33435600	Enhancers	Liver	Liver
8	chr15:33434600-33435600	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr15:33434600-33435800	Enhancers	Duodenum Mucosa	Duodenum
10	chr15:33434800-33435200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr15:33434800-33435200	Enhancers	Fetal Kidney	kidney
12	chr15:33434800-33435600	Enhancers	Colonic Mucosa	Colon
13	chr15:33434800-33435600	Bivalent Enhancer	GM12878-XiMat	blood
14	chr15:33435000-33438400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr15:33435200-33437200	Weak transcription	Fetal Kidney	kidney
16	chr15:33435800-33436000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr15:33435800-33442200	Weak transcription	Duodenum Mucosa	Duodenum
18	chr15:33436000-33437200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr15:33436000-33437400	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr15:33436200-33438600	Weak transcription	Fetal Intestine Small	intestine
21	chr15:33436600-33438200	Weak transcription	Fetal Intestine Large	intestine
22	chr15:33437200-33437600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr15:33437200-33438000	Enhancers	Fetal Kidney	kidney
24	chr15:33437200-33438600	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr15:33437200-33438600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr15:33437200-33438600	Enhancers	NHEK	skin
27	chr15:33437200-33438800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr15:33437200-33438800	Enhancers	HMEC	breast
29	chr15:33437200-33439000	Enhancers	Placenta	Placenta
30	chr15:33437400-33437600	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr15:33437400-33437800	Active TSS	Spleen	Spleen
32	chr15:33437400-33438000	Enhancers	NHDF-Ad	bronchial
33	chr15:33437400-33438400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr15:33437600-33437800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr15:33437600-33437800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr15:33437600-33438000	Enhancers	Esophagus	oesophagus
37	chr15:33437600-33438000	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr15:33437600-33438400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr15:33437800-33438000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr15:33437800-33438000	Flanking Active TSS	Spleen	Spleen
41	chr15:33437800-33438200	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr15:33438000-33438400	Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr15:33438000-33440200	Weak transcription	Fetal Kidney	kidney
44	chr15:33438000-33440600	Weak transcription	Esophagus	oesophagus
45	chr15:33438000-33442000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr15:33438200-33438400	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr15:33438200-33438400	Enhancers	Fetal Thymus	thymus
48	chr15:33438200-33438600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr15:33438200-33438600	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr15:33438200-33439400	Enhancers	Fetal Intestine Large	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links