Variant report

Variant	esv3333635
Chromosome Location	chr15:78355394-78355588
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:78355193..78358004-chr15:78358212..78361243,3	MCF-7	breast:
2	chr15:78347166..78349130-chr15:78354163..78355850,2	MCF-7	breast:
3	chr15:78354448..78356062-chr15:78363127..78365544,2	K562	blood:
4	chr15:78349057..78351181-chr15:78355340..78357401,2	MCF-7	breast:
5	chr15:78354121..78356578-chr15:78356635..78358699,2	K562	blood:

Variant related genes	Relation type
ENSG00000167202	chromatin interactions

Extended variants
information (count: 11 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188208564	chr15:78355395-78355396	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs60476332	chr15:78355400-78355401	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs60660249	chr15:78355407-78355408	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs60039377	chr15:78355425-78355426	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs552066988	chr15:78355427-78355428	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs192917225	chr15:78355440-78355441	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs534388856	chr15:78355478-78355479	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs182572666	chr15:78355502-78355503	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs567672329	chr15:78355513-78355514	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs12915847	chr15:78355525-78355526	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs556581017	chr15:78355567-78355568	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	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
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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Autism	21480499	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17133270	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16774939	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD

Chromatin state (count:131 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78296200-78358200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr15:78344800-78357600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr15:78344800-78359800	Weak transcription	Fetal Brain Female	brain
4	chr15:78346400-78356600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr15:78347000-78357400	Enhancers	Fetal Thymus	thymus
6	chr15:78347400-78367800	Enhancers	Placenta	Placenta
7	chr15:78348000-78355400	Enhancers	Primary B cells from peripheral blood	blood
8	chr15:78349400-78357400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr15:78349400-78360800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr15:78352000-78357000	Weak transcription	HMEC	breast
11	chr15:78352000-78357400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr15:78352200-78356000	Weak transcription	Gastric	stomach
13	chr15:78352200-78356200	Weak transcription	Colonic Mucosa	Colon
14	chr15:78352200-78356200	Weak transcription	Esophagus	oesophagus
15	chr15:78352800-78357600	Weak transcription	Fetal Muscle Trunk	muscle
16	chr15:78353000-78355400	Enhancers	Left Ventricle	heart
17	chr15:78353800-78356200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr15:78354200-78355400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
19	chr15:78354200-78355400	Enhancers	Brain Germinal Matrix	brain
20	chr15:78354200-78356400	Enhancers	Fetal Lung	lung
21	chr15:78354200-78356600	Enhancers	Right Ventricle	heart
22	chr15:78354200-78356800	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr15:78354200-78358000	Enhancers	HepG2	liver
24	chr15:78354200-78359600	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr15:78354200-78360600	Enhancers	Colon Smooth Muscle	Colon
26	chr15:78354200-78363200	Enhancers	Fetal Intestine Large	intestine
27	chr15:78354200-78363200	Enhancers	Stomach Mucosa	stomach
28	chr15:78354200-78366400	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr15:78354400-78355800	Weak transcription	Spleen	Spleen
30	chr15:78354600-78355600	Weak transcription	Aorta	Aorta
31	chr15:78354600-78355600	Enhancers	Fetal Brain Male	brain
32	chr15:78354600-78355800	Weak transcription	Right Atrium	heart
33	chr15:78354600-78355800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr15:78354600-78356200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr15:78354600-78356200	Weak transcription	Psoas Muscle	Psoas
36	chr15:78354600-78356400	Weak transcription	Brain Cingulate Gyrus	brain
37	chr15:78354600-78356400	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr15:78354600-78356400	Weak transcription	HSMM	muscle
39	chr15:78354600-78357200	Enhancers	Liver	Liver
40	chr15:78354600-78357400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr15:78354600-78357400	Enhancers	Brain Hippocampus Middle	brain
42	chr15:78354600-78357400	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr15:78354600-78357600	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr15:78354600-78357600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr15:78354600-78357600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr15:78354600-78357600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr15:78354600-78357600	Enhancers	Adipose Nuclei	Adipose
48	chr15:78354600-78357600	Enhancers	Fetal Intestine Small	intestine
49	chr15:78354600-78357800	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr15:78354600-78358400	Weak transcription	HUES6 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links