Variant report

Variant	esv3424579
Chromosome Location	chr15:75443850-75444374
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:75441576..75444367-chr15:75445715..75448698,2	K562	blood:
2	chr15:75316439..75318954-chr15:75442453..75445329,2	K562	blood:
3	chr15:75440695..75447245-chr15:75492805..75496623,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000167173	chromatin interactions

Extended variants
information (count: 13 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140756084	chr15:75443852-75443853	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs139394243	chr15:75444022-75444023	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs8025412	chr15:75444033-75444034	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs551317882	chr15:75444034-75444035	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs570425549	chr15:75444043-75444044	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs534885233	chr15:75444080-75444081	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs142703471	chr15:75444086-75444087	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs568274816	chr15:75444097-75444098	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs186948429	chr15:75444109-75444110	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs565806027	chr15:75444146-75444147	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs191795907	chr15:75444186-75444187	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs539443086	chr15:75444257-75444258	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs182190904	chr15:75444335-75444336	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	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
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
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Autism	17322880	CNVD
phobic disorder	16773131	CNVD
Autism	21480499	CNVD
Disorders of sex development	22290220	CNVD
Mental retardation	19951919	CNVD
Mental retardation	16773131	CNVD
T-cell lymphomas	19863542	CNVD
15q24 microdeletion syndrome	22180641	CNVD
15q24 microdeletion syndrome	19921647	CNVD
Disease	22216833	CNVD
Mental retardation	17360722	CNVD
15q24 microdeletion syndrome	22216833	CNVD
15q24 microdeletion syndrome	22283845	CNVD
Developmental delay	17932688	CNVD
craniofacial dysmorphism	17932688	CNVD
digital and genital abnormalities	17932688	CNVD
Epilepsy	22083797	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Myelofibrosis	22110671	CNVD
Bipolar disorder	19114987	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	16616336	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75438400-75445400	Weak transcription	Adipose Nuclei	Adipose
2	chr15:75438600-75444200	Weak transcription	HepG2	liver
3	chr15:75438600-75448600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr15:75441400-75444000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr15:75441800-75444000	Enhancers	HMEC	breast
6	chr15:75442000-75444000	Enhancers	HSMM	muscle
7	chr15:75442000-75444000	Enhancers	NHDF-Ad	bronchial
8	chr15:75442000-75445400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr15:75442000-75445800	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr15:75442200-75446000	Enhancers	K562	blood
11	chr15:75442400-75445600	Enhancers	GM12878-XiMat	blood
12	chr15:75442800-75445000	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr15:75442800-75445400	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr15:75443000-75444600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr15:75443000-75445600	Weak transcription	A549	lung
16	chr15:75443000-75445800	Enhancers	Hela-S3	cervix
17	chr15:75443200-75444800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr15:75443600-75444000	Enhancers	Muscle Satellite Cultured Cells	--
19	chr15:75443600-75444400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr15:75443600-75445200	Enhancers	HSMMtube	muscle
21	chr15:75443600-75447200	Enhancers	Placenta	Placenta
22	chr15:75443600-75448000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr15:75443600-75448400	Enhancers	Primary hematopoietic stem cells	blood
24	chr15:75443800-75444000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr15:75443800-75444000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr15:75443800-75444000	Enhancers	Lung	lung
27	chr15:75443800-75444000	Enhancers	Ovary	ovary
28	chr15:75443800-75444000	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr15:75443800-75444000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr15:75443800-75444000	Enhancers	Osteobl	bone
31	chr15:75443800-75444400	Enhancers	Left Ventricle	heart
32	chr15:75443800-75444600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr15:75443800-75444600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr15:75443800-75445200	Enhancers	Fetal Heart	heart
35	chr15:75443800-75445800	Enhancers	Fetal Muscle Leg	muscle
36	chr15:75443800-75447200	Enhancers	Fetal Muscle Trunk	muscle
37	chr15:75443800-75449400	Enhancers	Spleen	Spleen
38	chr15:75444000-75444200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr15:75444000-75444400	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr15:75444000-75444600	Weak transcription	Ovary	ovary
41	chr15:75444000-75445400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr15:75444000-75445600	Weak transcription	HMEC	breast
43	chr15:75444000-75445600	Weak transcription	NHDF-Ad	bronchial
44	chr15:75444000-75449000	Weak transcription	Lung	lung
45	chr15:75444200-75444400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr15:75444200-75444400	Enhancers	Duodenum Mucosa	Duodenum
47	chr15:75444200-75444400	Enhancers	Stomach Smooth Muscle	stomach
48	chr15:75444200-75447800	Enhancers	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links