Variant report

Variant	esv3354819
Chromosome Location	chr10:310745-311289
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547452668	chr10:310771-310772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs3123245	chr10:310780-310781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs10903788	chr10:310789-310790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs10903789	chr10:310796-310797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs571097394	chr10:310806-310807	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs71374350	chr10:310824-310825	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs199992266	chr10:310844-310845	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs111741202	chr10:310848-310849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540034614	chr10:310849-310850	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201145327	chr10:310852-310853	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201770266	chr10:310855-310856	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556895934	chr10:310878-310879	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12769861	chr10:310880-310881	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12775050	chr10:310882-310883	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370031362	chr10:310885-310886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs12415900	chr10:310898-310899	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12775185	chr10:310903-310904	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113413196	chr10:310907-310908	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113979454	chr10:310915-310916	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12411317	chr10:310919-310920	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12775214	chr10:310930-310931	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12411319	chr10:310939-310940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12416405	chr10:310941-310942	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372460742	chr10:310962-310963	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10794917	chr10:310966-310967	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369952024	chr10:310967-310968	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs371656230	chr10:310974-310975	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375091987	chr10:310975-310976	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs202131346	chr10:310978-310979	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576766334	chr10:310985-310986	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535856312	chr10:310997-310998	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555445735	chr10:311023-311024	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111669991	chr10:311028-311029	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572391780	chr10:311029-311030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112216911	chr10:311032-311033	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75557731	chr10:311063-311064	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs202057218	chr10:311096-311097	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12780603	chr10:311163-311164	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112853859	chr10:311178-311179	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376031818	chr10:311200-311201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs559450687	chr10:311208-311209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs576634096	chr10:311215-311216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs545553718	chr10:311231-311232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs562458358	chr10:311246-311247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs531478995	chr10:311253-311254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs542086738	chr10:311254-311255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs180962895	chr10:311269-311270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs527269494	chr10:311284-311285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

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

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:294600-311600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr10:294800-328600	Weak transcription	Psoas Muscle	Psoas
3	chr10:295000-332600	Weak transcription	Small Intestine	intestine
4	chr10:295200-324200	Weak transcription	Fetal Heart	heart
5	chr10:296400-312800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr10:296400-315400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr10:297600-321000	Weak transcription	Brain Angular Gyrus	brain
8	chr10:297800-321600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr10:298200-321800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr10:298200-339600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr10:298400-313800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr10:298400-317200	Weak transcription	Brain Substantia Nigra	brain
13	chr10:298400-318600	Weak transcription	Aorta	Aorta
14	chr10:298400-318600	Weak transcription	Gastric	stomach
15	chr10:298400-318800	Weak transcription	Brain Hippocampus Middle	brain
16	chr10:298400-321600	Weak transcription	Right Ventricle	heart
17	chr10:298400-323000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr10:298400-323000	Weak transcription	Esophagus	oesophagus
19	chr10:298400-323000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr10:298400-323000	Weak transcription	Spleen	Spleen
21	chr10:298400-354200	Weak transcription	Colonic Mucosa	Colon
22	chr10:298600-313000	Weak transcription	Pancreas	Pancrea
23	chr10:298600-321000	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr10:298600-321200	Weak transcription	Ovary	ovary
25	chr10:298800-317400	Weak transcription	Fetal Thymus	thymus
26	chr10:299600-312800	Weak transcription	A549	lung
27	chr10:300200-313000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr10:300200-321600	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr10:301000-315600	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr10:301000-321000	Weak transcription	Colon Smooth Muscle	Colon
31	chr10:301200-318600	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr10:301200-322800	Weak transcription	Placenta	Placenta
33	chr10:301400-313000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr10:301400-323000	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr10:301600-317200	Weak transcription	Fetal Intestine Small	intestine
36	chr10:301600-318400	Weak transcription	Brain Anterior Caudate	brain
37	chr10:302200-312800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr10:302200-318600	Weak transcription	HSMMtube	muscle
39	chr10:302400-312800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr10:302400-312800	Weak transcription	Osteobl	bone
41	chr10:302400-313000	Weak transcription	NH-A	brain
42	chr10:302400-315200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr10:302400-318600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr10:302400-321000	Weak transcription	Fetal Lung	lung
45	chr10:302400-321000	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr10:302400-323000	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr10:302600-313000	Weak transcription	NHDF-Ad	bronchial
48	chr10:302600-315600	Weak transcription	Lung	lung
49	chr10:302600-316400	Weak transcription	Stomach Smooth Muscle	stomach
50	chr10:302600-321000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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