Variant report

Variant	esv1503233
Chromosome Location	chr2:20653012-20653015
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:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:20550628..20552430-chr2:20652675..20654325,2	MCF-7	breast:
2	chr2:20651129..20653256-chr2:20748051..20749784,2	MCF-7	breast:
3	chr2:20640108..20658716-chr2:20812153..20855311,258	MCF-7	breast:
4	chr2:20652225..20654236-chr2:20656975..20659900,2	K562	blood:
5	chr2:20633992..20655025-chr2:20829429..20854651,127	MCF-7	breast:
6	chr2:20644797..20655251-chr2:20787626..20802274,53	MCF-7	breast:
7	chr2:20651875..20654191-chr2:20757660..20759690,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RHOB-1	chr2:20651697-20654380	NONHSAT069442

No data

Variant related genes	Relation type
ENSG00000118960	chromatin interactions
ENSG00000055917	chromatin interactions
ENSG00000231948	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 73 )

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	rs201667913	chr2:20653013-20653014	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Glioblastoma multiforme	21080181	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
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	20607354	CNVD
Neuroblastoma	19638189	CNVD
Neuroblastoma	19435921	CNVD
Neuroblastoma	18574593	CNVD
Acute myeloid leukemia	18000384	CNVD
Medulloblastoma	16968546	CNVD
Medulloblastoma	22160402	CNVD
Schizophrenia	22118685	CNVD
Epilepsy	22118685	CNVD
Breast cancer	21509527	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	17908972	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	18765546	CNVD
Neuroblastoma	18281664	CNVD
Neuroblastoma	17289879	CNVD
Neuroblastoma	19738985	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20650400-20653200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:20650600-20653200	Enhancers	Colon Smooth Muscle	Colon
3	chr2:20650800-20656000	Weak transcription	NHLF	lung
4	chr2:20650800-20659000	Weak transcription	Pancreas	Pancrea
5	chr2:20651000-20653200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
6	chr2:20651000-20655000	Weak transcription	Fetal Brain Female	brain
7	chr2:20651200-20653400	Enhancers	Brain Angular Gyrus	brain
8	chr2:20651200-20654200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:20651200-20655800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:20651200-20656000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr2:20651200-20656000	Weak transcription	NH-A	brain
12	chr2:20651400-20653400	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr2:20651400-20653400	Enhancers	Brain Substantia Nigra	brain
14	chr2:20651400-20655600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:20651400-20655800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:20651400-20656000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr2:20651400-20656000	Weak transcription	NHDF-Ad	bronchial
18	chr2:20651400-20656600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr2:20651600-20653200	Enhancers	Brain Cingulate Gyrus	brain
20	chr2:20651600-20656200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:20651600-20656600	Weak transcription	HSMM	muscle
22	chr2:20652200-20653400	Enhancers	Brain Hippocampus Middle	brain
23	chr2:20652200-20655000	Weak transcription	Psoas Muscle	Psoas
24	chr2:20652200-20655400	Weak transcription	Right Atrium	heart
25	chr2:20652200-20655800	Weak transcription	Aorta	Aorta
26	chr2:20652400-20657000	Weak transcription	Osteobl	bone
27	chr2:20652600-20655000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr2:20652600-20655000	Weak transcription	Esophagus	oesophagus
29	chr2:20652600-20655800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr2:20652800-20655800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:20652800-20656000	Weak transcription	HepG2	liver
32	chr2:20653000-20653200	Enhancers	Brain Anterior Caudate	brain
33	chr2:20653000-20654800	Weak transcription	Stomach Smooth Muscle	stomach
34	chr2:20653000-20655000	Weak transcription	Rectal Smooth Muscle	rectum
35	chr2:20653000-20657600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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