Variant report

Variant	esv3383404
Chromosome Location	chr10:96220647-96221184
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191014138	chr10:96220682-96220683	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs565300679	chr10:96220739-96220740	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs143426976	chr10:96220781-96220782	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs182182609	chr10:96220812-96220813	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs541875844	chr10:96220932-96220933	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs73327452	chr10:96220936-96220937	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs575560941	chr10:96220937-96220938	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs186291855	chr10:96220976-96220977	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs564830639	chr10:96220999-96221000	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs533442680	chr10:96221029-96221030	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs540869438	chr10:96221055-96221056	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs7906150	chr10:96221090-96221091	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs190800580	chr10:96221105-96221106	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs112000529	chr10:96221119-96221120	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs183116731	chr10:96221134-96221135	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs35998273	chr10:96221135-96221136	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs367769668	chr10:96221169-96221170	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs531306990	chr10:96221182-96221183	Weak transcription ZNF genes & repeats Enhancers	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
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:96190800-96234600	Weak transcription	Osteobl	bone
2	chr10:96203000-96239600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr10:96203400-96242800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr10:96204000-96221000	Weak transcription	Liver	Liver
5	chr10:96204200-96243400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr10:96210200-96248800	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr10:96211600-96220800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr10:96211600-96224000	Weak transcription	Psoas Muscle	Psoas
9	chr10:96211600-96292200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr10:96212400-96222800	Weak transcription	Fetal Lung	lung
11	chr10:96212600-96248600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr10:96212800-96221000	Weak transcription	Brain Hippocampus Middle	brain
13	chr10:96213000-96222800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr10:96213000-96234400	Weak transcription	HSMM	muscle
15	chr10:96215600-96255200	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr10:96216600-96223400	Weak transcription	Right Ventricle	heart
17	chr10:96216600-96243600	Weak transcription	Brain Anterior Caudate	brain
18	chr10:96216800-96221400	Weak transcription	Gastric	stomach
19	chr10:96218400-96221800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
20	chr10:96218800-96223000	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr10:96218800-96235000	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr10:96219600-96221400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr10:96219800-96221400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr10:96219800-96235200	Weak transcription	Left Ventricle	heart
25	chr10:96219800-96239600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr10:96219800-96242800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr10:96219800-96283400	Weak transcription	Lung	lung
28	chr10:96220000-96223000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr10:96220000-96223000	Weak transcription	Fetal Intestine Small	intestine
30	chr10:96220000-96223000	Weak transcription	Fetal Stomach	stomach
31	chr10:96220000-96227400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr10:96220000-96248800	Weak transcription	Colonic Mucosa	Colon
33	chr10:96220200-96221600	Weak transcription	HepG2	liver
34	chr10:96220600-96234200	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr10:96221000-96222200	Enhancers	Liver	Liver

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