Variant report

Variant	esv3420517
Chromosome Location	chr10:590018-590193
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:589190..591988-chr10:602233..604449,2	K562	blood:
2	chr10:582102..583966-chr10:587212..590042,3	K562	blood:
3	chr10:585455..588115-chr10:589415..592524,3	MCF-7	breast:
4	chr10:588433..590625-chr10:591503..594544,3	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533503230	chr10:590034-590035	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs550302576	chr10:590043-590044	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570163238	chr10:590053-590054	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs375844525	chr10:590054-590055	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185862112	chr10:590063-590064	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562109761	chr10:590068-590069	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141809963	chr10:590072-590073	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534999852	chr10:590073-590074	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557905012	chr10:590081-590082	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12266646	chr10:590082-590083	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs539351993	chr10:590101-590102	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556292317	chr10:590108-590109	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575856063	chr10:590110-590111	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541651973	chr10:590119-590120	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs116166116	chr10:590120-590121	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs150037777	chr10:590121-590122	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs145308769	chr10:590138-590139	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563929711	chr10:590139-590140	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533634764	chr10:590149-590150	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	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:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:582600-592600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr10:583200-592600	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr10:583200-593000	Weak transcription	NH-A	brain
4	chr10:583200-604800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr10:586000-593000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr10:587200-590200	Enhancers	Brain Germinal Matrix	brain
7	chr10:587200-590200	Enhancers	Esophagus	oesophagus
8	chr10:587400-590200	Enhancers	Left Ventricle	heart
9	chr10:587600-590200	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr10:587600-590200	Enhancers	Brain Substantia Nigra	brain
11	chr10:587600-590600	Enhancers	Fetal Brain Male	brain
12	chr10:588000-590200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr10:588200-590400	Enhancers	Brain Hippocampus Middle	brain
14	chr10:588200-591200	Weak transcription	Placenta	Placenta
15	chr10:588200-592400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr10:588200-592400	Weak transcription	Duodenum Mucosa	Duodenum
17	chr10:588200-593000	Weak transcription	Spleen	Spleen
18	chr10:588400-590600	Enhancers	Fetal Brain Female	brain
19	chr10:588400-592200	Weak transcription	Fetal Intestine Large	intestine
20	chr10:588400-592400	Weak transcription	Stomach Mucosa	stomach
21	chr10:588400-593000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr10:588400-593200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr10:588400-593200	Weak transcription	Adipose Nuclei	Adipose
24	chr10:588400-595200	Weak transcription	Psoas Muscle	Psoas
25	chr10:588600-592400	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr10:588600-593000	Weak transcription	Aorta	Aorta
27	chr10:588600-593000	Weak transcription	Fetal Muscle Trunk	muscle
28	chr10:588600-593000	Weak transcription	Lung	lung
29	chr10:588800-590200	Strong transcription	Fetal Intestine Small	intestine
30	chr10:588800-590600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr10:588800-592400	Weak transcription	Fetal Lung	lung
32	chr10:588800-593000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr10:588800-593000	Weak transcription	Colon Smooth Muscle	Colon
34	chr10:588800-593000	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr10:589000-590200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr10:589000-590200	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr10:589000-592400	Weak transcription	Stomach Smooth Muscle	stomach
38	chr10:589200-590200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr10:589200-593200	Weak transcription	Fetal Heart	heart
40	chr10:589200-593200	Weak transcription	Right Atrium	heart
41	chr10:589400-593000	Weak transcription	Fetal Stomach	stomach
42	chr10:589600-590200	Enhancers	Brain Angular Gyrus	brain
43	chr10:589600-590200	Enhancers	Brain Cingulate Gyrus	brain
44	chr10:589600-590200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr10:589600-590600	Enhancers	Brain Anterior Caudate	brain
46	chr10:589600-592600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr10:589800-590200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr10:589800-590200	Enhancers	Gastric	stomach
49	chr10:589800-590200	Enhancers	Right Ventricle	heart
50	chr10:590000-590200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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