Variant report

Variant	esv3332924
Chromosome Location	chr10:96014039-96014494
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377402718	chr10:96014043-96014044	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs144611511	chr10:96014045-96014046	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573646938	chr10:96014067-96014068	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562081988	chr10:96014071-96014072	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562504522	chr10:96014076-96014077	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs370542268	chr10:96014084-96014085	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576204421	chr10:96014098-96014099	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186571760	chr10:96014110-96014111	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564600862	chr10:96014122-96014123	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533346197	chr10:96014145-96014146	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113391132	chr10:96014154-96014155	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547055180	chr10:96014158-96014159	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2274222	chr10:96014171-96014172	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs529512612	chr10:96014228-96014229	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549660529	chr10:96014290-96014291	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569318225	chr10:96014338-96014339	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536756047	chr10:96014363-96014364	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538453858	chr10:96014378-96014379	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs369498868	chr10:96014423-96014424	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs147883803	chr10:96014455-96014456	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533542172	chr10:96014484-96014485	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Breast cancer	21364760	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Wilms tumour	21544195	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
Intracranial aneurysm	16715129	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:95974200-96034000	Weak transcription	Colon Smooth Muscle	Colon
2	chr10:95984800-96023800	Weak transcription	Pancreas	Pancrea
3	chr10:95985800-96033800	Weak transcription	Left Ventricle	heart
4	chr10:95994600-96045400	Weak transcription	Lung	lung
5	chr10:95995800-96051800	Weak transcription	Fetal Kidney	kidney
6	chr10:96004200-96015200	Weak transcription	Brain Substantia Nigra	brain
7	chr10:96004200-96022600	Strong transcription	Fetal Muscle Trunk	muscle
8	chr10:96004400-96034000	Weak transcription	Fetal Brain Male	brain
9	chr10:96005000-96016400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr10:96005000-96031200	Weak transcription	Brain Germinal Matrix	brain
11	chr10:96005200-96014200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr10:96005600-96019000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr10:96006600-96030200	Weak transcription	Gastric	stomach
14	chr10:96006600-96030200	Weak transcription	Ovary	ovary
15	chr10:96006600-96033600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr10:96008600-96022600	Strong transcription	Fetal Muscle Leg	muscle
17	chr10:96009400-96024000	Weak transcription	Small Intestine	intestine
18	chr10:96009600-96018800	Weak transcription	Duodenum Mucosa	Duodenum
19	chr10:96010600-96014800	Strong transcription	Cortex derived primary cultured neurospheres	brain
20	chr10:96010600-96014800	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr10:96010800-96017200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr10:96011200-96014400	Strong transcription	Placenta	Placenta
23	chr10:96011200-96016800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr10:96011400-96015000	Strong transcription	Fetal Stomach	stomach
25	chr10:96011800-96015200	Strong transcription	Stomach Smooth Muscle	stomach
26	chr10:96012000-96016000	Strong transcription	Fetal Intestine Small	intestine
27	chr10:96012000-96016800	Strong transcription	Fetal Intestine Large	intestine
28	chr10:96012000-96016800	Strong transcription	Rectal Mucosa Donor 31	rectum
29	chr10:96012200-96015000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr10:96012400-96014800	Strong transcription	Sigmoid Colon	Sigmoid Colon
31	chr10:96012400-96015000	Strong transcription	Fetal Brain Female	brain
32	chr10:96012600-96020600	Weak transcription	Fetal Lung	lung
33	chr10:96012600-96030600	Weak transcription	Stomach Mucosa	stomach
34	chr10:96012800-96014200	Strong transcription	HSMMtube	muscle
35	chr10:96012800-96019800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr10:96012800-96030600	Weak transcription	Spleen	Spleen
37	chr10:96013000-96014800	Strong transcription	Colonic Mucosa	Colon
38	chr10:96013200-96034000	Weak transcription	Adipose Nuclei	Adipose
39	chr10:96013400-96019800	Weak transcription	Aorta	Aorta
40	chr10:96013600-96034000	Weak transcription	Rectal Smooth Muscle	rectum
41	chr10:96014000-96014800	Strong transcription	A549	lung
42	chr10:96014000-96030000	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr10:96014000-96034000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr10:96014200-96016600	Weak transcription	HSMMtube	muscle
45	chr10:96014400-96030800	Weak transcription	Placenta	Placenta

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