Variant report

Variant	esv3530847
Chromosome Location	chr10:92087478-92088406
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	chr10:92079088..92081474-chr10:92085377..92088671,3	MCF-7	breast:

Extended variants
information (count: 35 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544226727	chr10:92087480-92087481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs112077468	chr10:92087496-92087497	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs141785333	chr10:92087506-92087507	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs150569602	chr10:92087517-92087518	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562506561	chr10:92087522-92087523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs139560836	chr10:92087526-92087527	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs144312670	chr10:92087557-92087558	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs146569337	chr10:92087559-92087560	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs527674586	chr10:92087609-92087610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547956182	chr10:92087634-92087635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140026290	chr10:92087636-92087637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs11186126	chr10:92087653-92087654	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs557565949	chr10:92087730-92087731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550364064	chr10:92087763-92087764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577608801	chr10:92087803-92087804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs79156842	chr10:92087809-92087810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537053357	chr10:92087810-92087811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192709526	chr10:92087853-92087854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573227378	chr10:92087857-92087858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558971699	chr10:92087896-92087897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577260316	chr10:92087911-92087912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs146785087	chr10:92087915-92087916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183829915	chr10:92087970-92087971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573413115	chr10:92088027-92088028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542327101	chr10:92088081-92088082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368880610	chr10:92088105-92088106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12268694	chr10:92088126-92088127	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs149019960	chr10:92088145-92088146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545326193	chr10:92088150-92088151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565174903	chr10:92088166-92088167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143807644	chr10:92088191-92088192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541446617	chr10:92088272-92088273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs151099629	chr10:92088278-92088279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs141027895	chr10:92088322-92088323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556952998	chr10:92088326-92088327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:92086000-92087600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr10:92086800-92092200	Weak transcription	Aorta	Aorta
3	chr10:92087000-92087600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr10:92087200-92088200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr10:92088400-92088600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr10:92088400-92089200	Enhancers	H9 Cell Line	embryonic stem cell

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