Variant report

Variant	esv2635462
Chromosome Location	chr2:9916998-9917001
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:9916325..9919455-chr2:9921227..9924824,4	MCF-7	breast:
2	chr2:9913973..9917175-chr2:9918406..9921250,3	K562	blood:
3	chr2:9769198..9773144-chr2:9916945..9918889,4	MCF-7	breast:
4	chr2:9916943..9919490-chr2:9982481..9984909,2	MCF-7	breast:
5	chr2:9916806..9919291-chr2:9935461..9938460,2	MCF-7	breast:
6	chr2:9911818..9914700-chr2:9914893..9917161,2	K562	blood:
7	chr2:9912711..9914278-chr2:9916005..9917523,2	MCF-7	breast:
8	chr2:9910788..9914069-chr2:9915018..9918206,3	K562	blood:
9	chr2:9900453..9903358-chr2:9916510..9918074,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000134308	chromatin interactions
ENSG00000115750	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 58 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112581667	chr2:9917001-9917002	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Mental retardation	17847001	CNVD
Glioblastoma multiforme	21080181	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Cancer	20164920	CNVD
Neuroblastoma	21508638	CNVD
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Ependymoma	16718352	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Glioma	17123091	CNVD
Breast cancer	20409316	CNVD
Multiple myeloma	16616336	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Neuroblastoma	18923524	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9909200-9919200	Weak transcription	Thymus	Thymus
2	chr2:9910600-9919000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr2:9911000-9918200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:9911000-9918400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr2:9911200-9918200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr2:9911400-9919800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr2:9911800-9922400	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr2:9912000-9918000	Weak transcription	Fetal Thymus	thymus
9	chr2:9912200-9917200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr2:9912400-9918200	Weak transcription	Esophagus	oesophagus
11	chr2:9912400-9918200	Weak transcription	Gastric	stomach
12	chr2:9912400-9921200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:9912400-9923000	Weak transcription	Right Atrium	heart
14	chr2:9913800-9917800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:9914600-9917400	Weak transcription	Spleen	Spleen
16	chr2:9914800-9919000	Weak transcription	Duodenum Mucosa	Duodenum
17	chr2:9914800-9920000	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr2:9914800-9922600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr2:9915000-9918000	Weak transcription	Fetal Intestine Large	intestine
20	chr2:9915000-9918000	Weak transcription	Fetal Intestine Small	intestine
21	chr2:9915000-9918200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:9915000-9918400	Weak transcription	Adipose Nuclei	Adipose
23	chr2:9915000-9924800	Weak transcription	Left Ventricle	heart
24	chr2:9916600-9917200	Weak transcription	Right Ventricle	heart

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