Variant report

Variant	esv3441025
Chromosome Location	chr15:35264810-35265236
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr15:35264107-35264825	K562	blood:	n/a	n/a
2	MYC	chr15:35264596-35264873	K562	blood:	n/a	n/a
3	STAT5A	chr15:35264494-35264851	K562	blood:	n/a	n/a
4	TAL1	chr15:35264526-35264877	K562	blood:	n/a	n/a
5	TEAD4	chr15:35264466-35264898	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:35263307..35266345-chr15:35268567..35270938,3	K562	blood:
2	chr15:35264656..35267660-chr15:35277567..35281665,3	K562	blood:
3	chr15:35263427..35267661-chr15:35274185..35276277,3	MCF-7	breast:

Variant related genes	Relation type
AQR	TF binding region
ENSG00000198146	chromatin interactions
ENSG00000212768	chromatin interactions

Extended variants
information (count: 19 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547587837	chr15:35264863-35264864	Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs183418376	chr15:35264866-35264867	Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs565989850	chr15:35264889-35264890	Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs571108984	chr15:35264948-35264949	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs369508243	chr15:35264950-35264951	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs150020691	chr15:35264978-35264979	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs187318381	chr15:35264991-35264992	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs138141435	chr15:35265000-35265001	Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs7181836	chr15:35265040-35265041	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs535694784	chr15:35265057-35265058	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs554209138	chr15:35265090-35265091	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs572461117	chr15:35265173-35265174	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs112452381	chr15:35265187-35265188	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs149552332	chr15:35265200-35265201	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs576077554	chr15:35265221-35265222	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs544094023	chr15:35265224-35265225	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs370776345	chr15:35265226-35265227	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs529877302	chr15:35265227-35265228	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs541680907	chr15:35265235-35265236	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
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
Legius syndrome	19443465	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	17440070	CNVD
Basal cell lymphoma	17053054	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:35262000-35276600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr15:35262000-35278600	Weak transcription	Gastric	stomach
3	chr15:35262400-35265600	Weak transcription	Fetal Heart	heart
4	chr15:35262400-35269600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr15:35262400-35269600	Weak transcription	HSMM	muscle
6	chr15:35262400-35269800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr15:35262400-35270000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr15:35262400-35273200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr15:35262400-35273400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr15:35262400-35273400	Weak transcription	GM12878-XiMat	blood
11	chr15:35262400-35273600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr15:35262400-35273600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr15:35262400-35273600	Weak transcription	Fetal Intestine Large	intestine
14	chr15:35262400-35273600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr15:35262400-35274600	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr15:35262400-35274600	Weak transcription	NHLF	lung
17	chr15:35262400-35278600	Weak transcription	HSMMtube	muscle
18	chr15:35262400-35279000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr15:35262400-35279000	Weak transcription	Aorta	Aorta
20	chr15:35262600-35265600	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr15:35262600-35265600	Weak transcription	HUVEC	blood vessel
22	chr15:35262600-35267400	Weak transcription	Brain Anterior Caudate	brain
23	chr15:35262600-35268400	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr15:35262600-35269000	Weak transcription	Brain Hippocampus Middle	brain
25	chr15:35262600-35269200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr15:35262600-35269600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr15:35262600-35269800	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr15:35262600-35269800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr15:35262600-35269800	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr15:35262600-35270000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr15:35262600-35270200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr15:35262600-35271000	Weak transcription	Fetal Thymus	thymus
33	chr15:35262600-35271200	Weak transcription	A549	lung
34	chr15:35262600-35272800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr15:35262600-35273200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr15:35262600-35273200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr15:35262600-35273200	Weak transcription	Primary hematopoietic stem cells	blood
38	chr15:35262600-35273400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr15:35262600-35273400	Weak transcription	Primary T cells from cord blood	blood
40	chr15:35262600-35273400	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr15:35262600-35273400	Weak transcription	Duodenum Mucosa	Duodenum
42	chr15:35262600-35273600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr15:35262600-35273600	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr15:35262600-35273600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr15:35262600-35273600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr15:35262600-35273600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr15:35262600-35273600	Weak transcription	Liver	Liver
48	chr15:35262600-35273600	Weak transcription	Brain Germinal Matrix	brain
49	chr15:35262600-35273600	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr15:35262600-35273600	Weak transcription	Hela-S3	cervix

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