Variant report

Variant	esv3512120
Chromosome Location	chr2:11474753-11475105
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:11472516..11476992-chr2:11482916..11485822,6	MCF-7	breast:
2	chr2:11471245..11477004-chr2:11481417..11486329,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134318	chromatin interactions

Extended variants
information (count: 15 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574561085	chr2:11474766-11474767	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs541987638	chr2:11474770-11474771	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs184812116	chr2:11474772-11474773	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs375572981	chr2:11474812-11474813	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs73915164	chr2:11474853-11474854	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs546172073	chr2:11474878-11474879	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs75866234	chr2:11474913-11474914	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs77567518	chr2:11474914-11474915	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs75371903	chr2:11474915-11474916	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs77191005	chr2:11474917-11474918	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs189636354	chr2:11474929-11474930	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs371040542	chr2:11474979-11474980	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs191387973	chr2:11475052-11475053	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs568587019	chr2:11475100-11475101	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs386508373	chr2:11475104-11475105	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Esophageal adenocarcinoma	18519675	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	21251322	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11457200-11476400	Weak transcription	Fetal Intestine Small	intestine
2	chr2:11461000-11476400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr2:11464400-11475200	Weak transcription	Aorta	Aorta
4	chr2:11467000-11480200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr2:11467400-11481200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:11467600-11481600	Weak transcription	Primary hematopoietic stem cells	blood
7	chr2:11467800-11480200	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr2:11468000-11476400	Weak transcription	Psoas Muscle	Psoas
9	chr2:11468400-11481200	Weak transcription	HUVEC	blood vessel
10	chr2:11470400-11479800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:11470400-11481400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:11470600-11475200	Weak transcription	Osteobl	bone
13	chr2:11470800-11475000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:11470800-11475200	Weak transcription	NHDF-Ad	bronchial
15	chr2:11470800-11475800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:11470800-11481200	Weak transcription	Right Atrium	heart
17	chr2:11470800-11481800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr2:11471000-11474800	Weak transcription	Ovary	ovary
19	chr2:11471000-11481200	Weak transcription	HSMM	muscle
20	chr2:11471200-11478600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr2:11471200-11480400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr2:11471400-11475800	Enhancers	Liver	Liver
23	chr2:11471600-11477000	Enhancers	HepG2	liver
24	chr2:11472200-11476400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:11472200-11476400	Weak transcription	Pancreas	Pancrea
26	chr2:11472200-11482800	Weak transcription	Gastric	stomach
27	chr2:11473200-11475600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:11473200-11476200	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr2:11473600-11479800	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr2:11473800-11479600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr2:11474000-11477000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr2:11474000-11479800	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr2:11474200-11475200	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr2:11474200-11475400	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr2:11474200-11476400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr2:11474200-11480000	Weak transcription	Adipose Nuclei	Adipose
37	chr2:11474400-11474800	Weak transcription	A549	lung
38	chr2:11474600-11475200	Enhancers	Stomach Mucosa	stomach
39	chr2:11474800-11475400	Enhancers	Ovary	ovary
40	chr2:11474800-11476000	Enhancers	A549	lung
41	chr2:11475000-11476000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr2:11475000-11481200	Weak transcription	Rectal Mucosa Donor 29	rectum

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