Variant report

Variant	esv2510244
Chromosome Location	chr10:93224851-93224851
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	chr10:93169232..93170758-chr10:93223754..93225469,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000165338	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 76 )

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	rs58531347	chr10:93224851-93224852	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Usher syndrome	20538994	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Paraganglioma	17535989	CNVD
Submicroscopic aberration syndrome	21292638	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Colorectal cancer	18645599	CNVD
Polyposis syndrome	18645599	CNVD
Prostate cancer	17245344	CNVD
Glioblastoma multiforme	17369134	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	22032731	CNVD
Ovarian cancer	20844748	CNVD
Glioblastoma multiforme	17002787	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	17387387	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21364760	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Wilms tumour	21544195	CNVD
small cell lung cancer	20016488	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cervical cancer	21062161	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	24453001	CNVD
Breast cancer	16608533	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:93184400-93226400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr10:93186000-93226800	Weak transcription	Pancreas	Pancrea
3	chr10:93214200-93272000	Weak transcription	HUVEC	blood vessel
4	chr10:93218000-93230600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr10:93218600-93228200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr10:93219600-93247600	Weak transcription	HSMMtube	muscle
7	chr10:93220200-93225000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr10:93220200-93225000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr10:93220200-93226200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr10:93220200-93226800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr10:93220600-93226600	Weak transcription	NHLF	lung
12	chr10:93220600-93226800	Weak transcription	A549	lung
13	chr10:93220600-93271400	Weak transcription	HMEC	breast
14	chr10:93220800-93229200	Weak transcription	Duodenum Mucosa	Duodenum
15	chr10:93220800-93248200	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr10:93220800-93259400	Weak transcription	Primary T cells from cord blood	blood
17	chr10:93221000-93226600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr10:93221000-93228800	Weak transcription	Primary B cells from cord blood	blood
19	chr10:93221800-93225000	Strong transcription	Cortex derived primary cultured neurospheres	brain
20	chr10:93221800-93225200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr10:93221800-93225400	Strong transcription	HSMM	muscle
22	chr10:93221800-93226600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr10:93222000-93225200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr10:93222200-93226000	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr10:93222200-93228000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr10:93222400-93225000	Weak transcription	Brain Hippocampus Middle	brain
27	chr10:93222400-93225200	Strong transcription	Dnd41	blood
28	chr10:93222400-93226400	Weak transcription	Brain Cingulate Gyrus	brain
29	chr10:93222400-93228200	Strong transcription	Fetal Brain Male	brain
30	chr10:93222400-93230400	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr10:93222600-93226800	Weak transcription	Gastric	stomach
32	chr10:93222600-93226800	Weak transcription	Thymus	Thymus
33	chr10:93222600-93228000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr10:93222600-93254400	Weak transcription	NHDF-Ad	bronchial
35	chr10:93222800-93227000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr10:93222800-93244600	Weak transcription	Osteobl	bone
37	chr10:93223000-93226600	Weak transcription	Right Ventricle	heart
38	chr10:93223000-93226800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr10:93223000-93227000	Weak transcription	Spleen	Spleen
40	chr10:93223000-93227200	ZNF genes & repeats	Fetal Lung	lung
41	chr10:93223200-93225200	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr10:93223200-93230400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr10:93223400-93225200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr10:93223400-93226800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr10:93223400-93228400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr10:93223600-93225200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr10:93223600-93225200	ZNF genes & repeats	Fetal Kidney	kidney
48	chr10:93223600-93226600	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr10:93223600-93228400	Weak transcription	Stomach Mucosa	stomach
50	chr10:93223800-93225200	Strong transcription	Skeletal Muscle Male	skeletal muscle

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