Variant report

Variant	esv2161011
Chromosome Location	chr10:91354373-91354374
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	chr10:91347329..91350012-chr10:91354291..91355825,2	MCF-7	breast:

Extended variants
information (count: 1 )
Associated
traits (count: 87 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10785889	chr10:91354373-91354374	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:87)

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
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21364760	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Wilms tumour	21544195	CNVD
small cell lung cancer	20016488	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Colorectal cancer	19359472	CNVD
Neurocytoma	17123091	CNVD
Prostate cancer	16461572	CNVD
Basal-like breast cancer	18066063	CNVD
Effusion lymphoma	18079361	CNVD
Lung cancer	21911935	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	22048815	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Glioblastoma multiforme	22286061	CNVD
Intracranial ependymoma	16609018	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
Sezary syndrome	18413736	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:91335400-91370800	Weak transcription	A549	lung
2	chr10:91335400-91375600	Weak transcription	NH-A	brain
3	chr10:91343200-91372600	Weak transcription	Primary B cells from cord blood	blood
4	chr10:91343400-91369200	Weak transcription	Brain Angular Gyrus	brain
5	chr10:91344000-91369200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr10:91345000-91392800	Weak transcription	Hela-S3	cervix
7	chr10:91346400-91357800	Weak transcription	Fetal Kidney	kidney
8	chr10:91346400-91358000	Weak transcription	Fetal Brain Female	brain
9	chr10:91347000-91359200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr10:91348600-91373200	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr10:91348800-91358000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr10:91349200-91367600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr10:91349400-91357600	Weak transcription	HSMMtube	muscle
14	chr10:91349400-91372400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr10:91350200-91359800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr10:91350400-91354600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr10:91350600-91355000	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr10:91350800-91363200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr10:91351000-91360800	Weak transcription	Thymus	Thymus
20	chr10:91351000-91371200	Weak transcription	Brain Anterior Caudate	brain
21	chr10:91351200-91355000	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr10:91351400-91354800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr10:91351400-91368600	Weak transcription	Gastric	stomach
24	chr10:91351600-91403400	Weak transcription	Esophagus	oesophagus
25	chr10:91351800-91358400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr10:91351800-91362600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr10:91351800-91368600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr10:91351800-91373200	Weak transcription	Pancreas	Pancrea
29	chr10:91352000-91357200	Weak transcription	Psoas Muscle	Psoas
30	chr10:91352000-91357800	Weak transcription	Stomach Smooth Muscle	stomach
31	chr10:91352200-91357800	Weak transcription	NHLF	lung
32	chr10:91352200-91358200	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr10:91352200-91358400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr10:91352200-91369400	Weak transcription	Aorta	Aorta
35	chr10:91352200-91373200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr10:91352200-91373400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr10:91352400-91357000	Weak transcription	HepG2	liver
38	chr10:91352400-91357800	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr10:91352600-91357800	Weak transcription	Ovary	ovary
40	chr10:91352600-91358400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr10:91352600-91361000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr10:91352600-91369600	Weak transcription	Placenta	Placenta
43	chr10:91352600-91373200	Weak transcription	Adipose Nuclei	Adipose
44	chr10:91352600-91403400	Weak transcription	Small Intestine	intestine
45	chr10:91352800-91356200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr10:91353000-91357400	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr10:91353200-91358400	Weak transcription	Right Ventricle	heart
48	chr10:91353200-91369200	Weak transcription	Brain Hippocampus Middle	brain
49	chr10:91353200-91369200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr10:91353200-91371600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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