Variant report

Variant	esv3415338
Chromosome Location	chr10:551474-551711
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:550299..552878-chr10:830515..832425,2	MCF-7	breast:
2	chr10:537447..538953-chr10:549708..551934,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542685584	chr10:551500-551501	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs191098860	chr10:551501-551502	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572389307	chr10:551502-551503	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs541178058	chr10:551524-551525	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs564280270	chr10:551563-551564	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533200576	chr10:551577-551578	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs35232824	chr10:551588-551589	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs372520201	chr10:551604-551605	Weak transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs543499828	chr10:551626-551627	Weak transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs531798567	chr10:551631-551632	Weak transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs528864805	chr10:551635-551636	Weak transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs11252841	chr10:551648-551649	Weak transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs535520143	chr10:551664-551665	Weak transcription Bivalent Enhancer Enhancers Genic 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:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:532000-557000	Weak transcription	Pancreas	Pancrea
2	chr10:537600-556600	Weak transcription	HSMM	muscle
3	chr10:538000-552600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr10:539800-552800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr10:540000-556400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr10:543600-552000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr10:544600-556800	Weak transcription	Placenta	Placenta
8	chr10:545200-554800	Weak transcription	Ovary	ovary
9	chr10:545400-565000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr10:546000-556800	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr10:546200-551800	Weak transcription	Fetal Stomach	stomach
12	chr10:546200-552800	Weak transcription	Fetal Intestine Large	intestine
13	chr10:546200-555000	Weak transcription	Left Ventricle	heart
14	chr10:546200-555200	Weak transcription	Fetal Brain Male	brain
15	chr10:546400-552200	Weak transcription	Right Ventricle	heart
16	chr10:546400-552600	Weak transcription	Gastric	stomach
17	chr10:546800-556400	Weak transcription	NHLF	lung
18	chr10:547000-552200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr10:547000-552200	Weak transcription	Brain Germinal Matrix	brain
20	chr10:547000-560200	Weak transcription	Aorta	Aorta
21	chr10:547200-551600	Weak transcription	Brain Angular Gyrus	brain
22	chr10:547200-552200	Weak transcription	Fetal Lung	lung
23	chr10:547200-552800	Weak transcription	Brain Substantia Nigra	brain
24	chr10:547200-555800	Weak transcription	Fetal Brain Female	brain
25	chr10:547200-556200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr10:547200-556800	Weak transcription	Psoas Muscle	Psoas
27	chr10:547400-551800	Weak transcription	Stomach Smooth Muscle	stomach
28	chr10:547400-555400	Weak transcription	Brain Cingulate Gyrus	brain
29	chr10:547400-555400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr10:547400-556600	Weak transcription	Duodenum Mucosa	Duodenum
31	chr10:547600-552000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr10:547600-552600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr10:547600-555200	Weak transcription	Brain Hippocampus Middle	brain
34	chr10:547600-556400	Weak transcription	NH-A	brain
35	chr10:547800-551800	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr10:547800-552800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr10:547800-552800	Weak transcription	Adipose Nuclei	Adipose
38	chr10:547800-554200	Weak transcription	Rectal Smooth Muscle	rectum
39	chr10:547800-554400	Weak transcription	Osteobl	bone
40	chr10:547800-555200	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr10:548000-551600	Weak transcription	Brain Anterior Caudate	brain
42	chr10:548000-553200	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr10:548000-556400	Weak transcription	Lung	lung
44	chr10:548200-555600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr10:548600-551600	Weak transcription	Colon Smooth Muscle	Colon
46	chr10:548600-552400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr10:548600-556800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr10:548800-556800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr10:549400-552800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr10:550000-552800	Enhancers	Skeletal Muscle Female	skeletal muscle

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