Variant report

Variant	esv2384681
Chromosome Location	chr10:93204513-93204517
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 2 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35926209	chr10:93204513-93204514	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs57998663	chr10:93204516-93204517	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Active TSS	n/a	n/a	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:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:93170800-93204600	Weak transcription	Gastric	stomach
2	chr10:93175000-93205400	Weak transcription	Aorta	Aorta
3	chr10:93175000-93208800	Weak transcription	Adipose Nuclei	Adipose
4	chr10:93176600-93205400	Weak transcription	Duodenum Mucosa	Duodenum
5	chr10:93176600-93212600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr10:93182200-93207200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr10:93184000-93205000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr10:93184400-93226400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr10:93185000-93208800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr10:93186000-93226800	Weak transcription	Pancreas	Pancrea
11	chr10:93186600-93205600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr10:93192000-93206600	Weak transcription	Primary B cells from cord blood	blood
13	chr10:93193400-93205000	Weak transcription	Fetal Stomach	stomach
14	chr10:93193600-93204600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr10:93193600-93205600	Weak transcription	Liver	Liver
16	chr10:93193800-93204800	Weak transcription	Right Ventricle	heart
17	chr10:93194400-93204600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr10:93194400-93204600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr10:93194400-93205600	Weak transcription	NH-A	brain
20	chr10:93194600-93213800	Weak transcription	HUVEC	blood vessel
21	chr10:93195200-93206400	Weak transcription	HSMM	muscle
22	chr10:93195400-93204800	Weak transcription	Left Ventricle	heart
23	chr10:93195400-93207600	Weak transcription	Esophagus	oesophagus
24	chr10:93195400-93207600	Weak transcription	Fetal Intestine Large	intestine
25	chr10:93195600-93205000	Weak transcription	Psoas Muscle	Psoas
26	chr10:93195600-93205400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr10:93195600-93205400	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr10:93195600-93208200	Weak transcription	Fetal Muscle Leg	muscle
29	chr10:93195600-93213000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr10:93196000-93220600	Weak transcription	Hela-S3	cervix
31	chr10:93198200-93204600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr10:93198200-93205400	Weak transcription	Ovary	ovary
33	chr10:93198400-93208400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr10:93202600-93205200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr10:93203000-93205400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr10:93203200-93205000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr10:93203400-93205000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr10:93203400-93206000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr10:93203600-93204600	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr10:93203600-93204800	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr10:93203600-93204800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr10:93203600-93207600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr10:93203800-93205200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr10:93204000-93204600	Weak transcription	Fetal Brain Female	brain
45	chr10:93204000-93204800	Enhancers	Fetal Lung	lung
46	chr10:93204000-93205000	Enhancers	Brain Anterior Caudate	brain
47	chr10:93204000-93205200	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr10:93204000-93205200	Enhancers	Fetal Heart	heart
49	chr10:93204200-93204600	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr10:93204200-93204600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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