Variant report

Variant	esv3377794
Chromosome Location	chr15:57902360-57902686
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:57890403..57892737-chr15:57900809..57902698,2	MCF-7	breast:
2	chr15:57850660..57853481-chr15:57902440..57904405,2	MCF-7	breast:
3	chr15:57897591..57899946-chr15:57902419..57904652,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000263155	chromatin interactions

Extended variants
information (count: 14 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577718764	chr15:57902393-57902394	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs190216807	chr15:57902411-57902412	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs724786	chr15:57902447-57902448	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs570428235	chr15:57902469-57902470	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs9920598	chr15:57902475-57902476	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs724785	chr15:57902482-57902483	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs182518215	chr15:57902529-57902530	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs542589213	chr15:57902564-57902565	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs562457441	chr15:57902568-57902569	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs116454513	chr15:57902598-57902599	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs545077366	chr15:57902646-57902647	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs144790496	chr15:57902647-57902648	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs185229337	chr15:57902649-57902650	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs566568973	chr15:57902681-57902682	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	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
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
Gastrointestinal stromal cancer	16982739	CNVD
Chronic lymphocytic leukemia	21546498	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
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	18496225	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

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57890000-57902400	Weak transcription	Ovary	ovary
2	chr15:57890200-57904200	Weak transcription	Fetal Stomach	stomach
3	chr15:57890200-57904400	Weak transcription	Fetal Lung	lung
4	chr15:57892000-57908800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr15:57892600-57903200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr15:57894400-57938200	Weak transcription	Primary B cells from peripheral blood	blood
7	chr15:57897000-57909200	Weak transcription	Psoas Muscle	Psoas
8	chr15:57897200-57903600	Weak transcription	Aorta	Aorta
9	chr15:57897200-57903800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr15:57899000-57902600	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr15:57899000-57905000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr15:57899200-57905000	Enhancers	Duodenum Mucosa	Duodenum
13	chr15:57899200-57905200	Enhancers	Fetal Heart	heart
14	chr15:57899400-57903400	Enhancers	HUVEC	blood vessel
15	chr15:57899400-57904000	Enhancers	Rectal Mucosa Donor 29	rectum
16	chr15:57899600-57904000	Weak transcription	Fetal Muscle Leg	muscle
17	chr15:57899800-57903600	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr15:57900000-57904200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr15:57900000-57904200	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr15:57900200-57902600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr15:57900200-57902600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr15:57900200-57904200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr15:57900200-57904800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr15:57900400-57903600	Weak transcription	HMEC	breast
25	chr15:57900400-57904400	Enhancers	Stomach Mucosa	stomach
26	chr15:57900600-57902600	Weak transcription	Gastric	stomach
27	chr15:57900600-57904000	Weak transcription	Placenta	Placenta
28	chr15:57900600-57905200	Enhancers	Fetal Intestine Large	intestine
29	chr15:57900600-57911800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr15:57900600-57941600	Weak transcription	Colonic Mucosa	Colon
31	chr15:57900800-57904000	Weak transcription	Lung	lung
32	chr15:57901200-57902600	Weak transcription	Esophagus	oesophagus
33	chr15:57901200-57902600	Weak transcription	Right Atrium	heart
34	chr15:57901200-57902800	Weak transcription	Left Ventricle	heart
35	chr15:57901200-57903600	Weak transcription	Right Ventricle	heart
36	chr15:57901200-57905000	Enhancers	Colon Smooth Muscle	Colon
37	chr15:57901400-57902600	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr15:57901600-57902600	Enhancers	Rectal Smooth Muscle	rectum
39	chr15:57901600-57905000	Enhancers	Fetal Intestine Small	intestine
40	chr15:57901800-57902600	Weak transcription	Pancreas	Pancrea
41	chr15:57901800-57902800	Weak transcription	Small Intestine	intestine
42	chr15:57901800-57912000	Weak transcription	Spleen	Spleen
43	chr15:57902000-57902400	Enhancers	Adipose Nuclei	Adipose
44	chr15:57902000-57902800	Enhancers	Muscle Satellite Cultured Cells	--
45	chr15:57902000-57903000	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr15:57902000-57903000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr15:57902000-57903000	Enhancers	Osteobl	bone
48	chr15:57902000-57903200	Enhancers	NH-A	brain
49	chr15:57902000-57904600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr15:57902200-57902400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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