Variant report

Variant	esv3449737
Chromosome Location	chr2:10341926-10342513
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	chr2:10331138..10333960-chr2:10340461..10341964,2	K562	blood:

Variant related genes	Relation type
ENSG00000265418	chromatin interactions

Extended variants
information (count: 10 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6708387	chr2:10342012-10342013	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs532139731	chr2:10342120-10342121	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs189073877	chr2:10342131-10342132	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567343880	chr2:10342170-10342171	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536586261	chr2:10342266-10342267	Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs150917098	chr2:10342302-10342303	Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs140274632	chr2:10342305-10342306	Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs181520702	chr2:10342312-10342313	Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543236256	chr2:10342363-10342364	Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374046278	chr2:10342443-10342444	Weak transcription Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10290200-10351400	Strong transcription	Dnd41	blood
2	chr2:10313000-10344400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr2:10325600-10342800	Weak transcription	Fetal Brain Female	brain
4	chr2:10333000-10347000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr2:10335200-10348600	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr2:10336800-10344600	Weak transcription	Brain Hippocampus Middle	brain
7	chr2:10337200-10342800	Weak transcription	Gastric	stomach
8	chr2:10337200-10349600	Weak transcription	Spleen	Spleen
9	chr2:10337600-10342800	Weak transcription	Fetal Brain Male	brain
10	chr2:10338600-10351200	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr2:10338800-10342400	Weak transcription	K562	blood
12	chr2:10338800-10344400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr2:10339200-10345400	Weak transcription	Fetal Thymus	thymus
14	chr2:10339200-10345600	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr2:10339400-10342400	Weak transcription	Fetal Stomach	stomach
16	chr2:10339400-10342600	Weak transcription	Fetal Muscle Leg	muscle
17	chr2:10339400-10343000	Weak transcription	Thymus	Thymus
18	chr2:10339400-10350600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:10339400-10362000	Weak transcription	Fetal Intestine Small	intestine
20	chr2:10340000-10344000	Weak transcription	Brain Germinal Matrix	brain
21	chr2:10340400-10344400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:10341800-10342400	Weak transcription	Fetal Intestine Large	intestine
23	chr2:10341800-10354400	Weak transcription	HepG2	liver
24	chr2:10342200-10342800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:10342200-10348600	Weak transcription	A549	lung
26	chr2:10342400-10342600	Enhancers	Fetal Intestine Large	intestine
27	chr2:10342400-10342800	Enhancers	K562	blood
28	chr2:10342400-10343000	Enhancers	HMEC	breast
29	chr2:10342400-10343600	Enhancers	Fetal Stomach	stomach

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