Variant report

Variant	esv3381078
Chromosome Location	chr10:490207-490558
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374771577	chr10:490214-490215	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs537231738	chr10:490227-490228	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs142831300	chr10:490241-490242	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs147406939	chr10:490242-490243	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs79005617	chr10:490245-490246	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs77995081	chr10:490250-490251	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs77347335	chr10:490254-490255	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs367830002	chr10:490256-490257	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs79944740	chr10:490264-490265	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs79241490	chr10:490278-490279	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs148583930	chr10:490279-490280	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs74752091	chr10:490280-490281	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs577899479	chr10:490286-490287	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs61837239	chr10:490297-490298	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs61837240	chr10:490301-490302	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs145071244	chr10:490308-490309	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs140469602	chr10:490325-490326	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs73573659	chr10:490352-490353	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs542318167	chr10:490367-490368	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs559068098	chr10:490368-490369	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs528066346	chr10:490389-490390	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs551390860	chr10:490391-490392	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs190116151	chr10:490406-490407	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs374159302	chr10:490422-490423	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs531254588	chr10:490463-490464	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs4880678	chr10:490472-490473	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs182367115	chr10:490476-490477	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs536895875	chr10:490481-490482	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs186895689	chr10:490484-490485	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs138119454	chr10:490498-490499	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs190709937	chr10:490546-490547	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	20409316	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Breast cancer	17133270	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Cancer	21129771	CNVD
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	17363583	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21525872	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21858162	CNVD
Obesity	19966786	CNVD

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:436600-521200	Weak transcription	HepG2	liver
2	chr10:443400-497000	Weak transcription	Psoas Muscle	Psoas
3	chr10:445800-498400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr10:456000-496600	Weak transcription	Fetal Heart	heart
5	chr10:466200-500000	Weak transcription	NHDF-Ad	bronchial
6	chr10:466400-497200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr10:467600-496600	Weak transcription	Colon Smooth Muscle	Colon
8	chr10:468800-496200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr10:469600-496800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr10:469800-496600	Weak transcription	Adipose Nuclei	Adipose
11	chr10:474800-495000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr10:476800-500000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr10:479800-503600	Weak transcription	NHLF	lung
14	chr10:482600-498400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr10:482600-498400	Weak transcription	Spleen	Spleen
16	chr10:483000-503600	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr10:483400-491400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr10:483400-499400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr10:483600-491600	Weak transcription	Duodenum Mucosa	Duodenum
20	chr10:483600-491800	Weak transcription	Fetal Intestine Large	intestine
21	chr10:483600-498600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr10:483600-498600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr10:483600-501000	Weak transcription	Esophagus	oesophagus
24	chr10:484000-491400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr10:484600-491400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr10:484600-492600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr10:484600-496000	Weak transcription	Brain Hippocampus Middle	brain
28	chr10:484800-491600	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr10:485000-490600	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr10:485400-491800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr10:485400-492400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr10:485400-494800	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr10:485400-496400	Weak transcription	Ovary	ovary
34	chr10:485600-491600	Weak transcription	Fetal Muscle Trunk	muscle
35	chr10:485600-496200	Weak transcription	Aorta	Aorta
36	chr10:485600-498600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr10:485800-496400	Weak transcription	Fetal Lung	lung
38	chr10:486000-498200	Weak transcription	Fetal Brain Female	brain
39	chr10:486000-500600	Weak transcription	NH-A	brain
40	chr10:486400-496000	Weak transcription	Brain Angular Gyrus	brain
41	chr10:486400-496200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr10:486400-496600	Weak transcription	Left Ventricle	heart
43	chr10:486400-504600	Weak transcription	Fetal Kidney	kidney
44	chr10:486600-498200	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr10:486800-496200	Weak transcription	Osteobl	bone
46	chr10:486800-496400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr10:486800-496600	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr10:486800-498800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr10:486800-505400	Weak transcription	HSMM	muscle
50	chr10:487000-490400	Weak transcription	Brain Inferior Temporal Lobe	brain

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