Variant report

Variant	esv9081
Chromosome Location	chr15:57213124-57213295
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	CHD1	chr15:57210048-57213133	IMR90	lung:	n/a	chr15:57210741-57210751 chr15:57211212-57211222
2	HCFC1	chr15:57210031-57213492	Hela-S3	cervix:	n/a	n/a
3	MXI1	chr15:57210124-57213215	IMR90	lung:	n/a	n/a
4	MYC	chr15:57212109-57213252	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:57213053..57214861-chr15:57239551..57242181,2	K562	blood:
2	chr15:57212275..57213860-chr15:57281190..57283282,2	K562	blood:

Variant related genes	Relation type
ZNF280D	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76588581	chr15:57213179-57213180	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs139011395	chr15:57213183-57213184	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs201249866	chr15:57213192-57213193	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs75960447	chr15:57213206-57213207	Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs150851735	chr15:57213240-57213241	Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs35615435	chr15:57213283-57213284	Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:59)

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
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	16982739	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

Chromatin state (count:165 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57209400-57213200	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr15:57209400-57213400	Active TSS	HSMMtube	muscle
3	chr15:57209400-57217200	Active TSS	Thymus	Thymus
4	chr15:57209600-57213400	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr15:57209800-57213200	Active TSS	Brain Cingulate Gyrus	brain
6	chr15:57209800-57213200	Active TSS	Fetal Kidney	kidney
7	chr15:57210000-57213200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr15:57210000-57213400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr15:57210200-57213200	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr15:57210200-57213400	Active TSS	Brain Hippocampus Middle	brain
11	chr15:57210200-57213600	Active TSS	K562	blood
12	chr15:57210400-57215600	Active TSS	Fetal Thymus	thymus
13	chr15:57210600-57213200	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr15:57210600-57213200	Active TSS	HMEC	breast
15	chr15:57210600-57213200	Active TSS	NH-A	brain
16	chr15:57210800-57213200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr15:57211400-57213200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr15:57211400-57216000	Transcr. at gene 5' and 3'	Dnd41	blood
19	chr15:57211800-57213400	Flanking Active TSS	Primary hematopoietic stem cells	blood
20	chr15:57212000-57213200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr15:57212000-57213200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr15:57212200-57213200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
23	chr15:57212200-57213200	Transcr. at gene 5' and 3'	Colon Smooth Muscle	Colon
24	chr15:57212200-57213400	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr15:57212200-57213400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr15:57212200-57213400	Flanking Active TSS	Fetal Brain Female	brain
27	chr15:57212200-57213400	Active TSS	Right Atrium	heart
28	chr15:57212400-57213200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
29	chr15:57212400-57213200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr15:57212400-57213400	Flanking Active TSS	Brain Angular Gyrus	brain
31	chr15:57212400-57218200	Weak transcription	Small Intestine	intestine
32	chr15:57212400-57219000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr15:57212400-57222000	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr15:57212400-57224800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr15:57212400-57224800	Weak transcription	Spleen	Spleen
36	chr15:57212400-57230400	Weak transcription	Lung	lung
37	chr15:57212400-57233400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr15:57212400-57256000	Weak transcription	Pancreas	Pancrea
39	chr15:57212600-57213200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr15:57212600-57213200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr15:57212600-57213200	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr15:57212600-57213200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
43	chr15:57212600-57213200	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr15:57212600-57213200	Flanking Active TSS	HepG2	liver
45	chr15:57212600-57213400	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr15:57212600-57213400	Flanking Active TSS	Primary T cells from cord blood	blood
47	chr15:57212600-57213400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
48	chr15:57212600-57213400	Flanking Active TSS	Brain Anterior Caudate	brain
49	chr15:57212600-57213600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr15:57212600-57213600	Enhancers	Primary T helper naive cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links