Variant report

Variant	esv3531102
Chromosome Location	chr10:95545342-95546591
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	chr10:95538097..95540251-chr10:95543873..95546365,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533097986	chr10:95545343-95545344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs550431652	chr10:95545377-95545378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs7099034	chr10:95545378-95545379	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs79625400	chr10:95545462-95545463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs201975225	chr10:95545478-95545479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs199855767	chr10:95545480-95545481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs57939561	chr10:95545505-95545506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs144101819	chr10:95545513-95545514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs56086622	chr10:95545540-95545541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs190225952	chr10:95545644-95545645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs7069172	chr10:95545723-95545724	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs537764692	chr10:95545740-95545741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs7068948	chr10:95545784-95545785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs576950678	chr10:95545808-95545809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs61199500	chr10:95545817-95545818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs553069703	chr10:95545835-95545836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs115040150	chr10:95545979-95545980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs144174422	chr10:95545988-95545989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs370827276	chr10:95546008-95546009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561754329	chr10:95546028-95546029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376345170	chr10:95546042-95546043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs7069539	chr10:95546064-95546065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7087537	chr10:95546092-95546093	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs72637506	chr10:95546097-95546098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201612932	chr10:95546159-95546160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182568731	chr10:95546268-95546269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs147766536	chr10:95546311-95546312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs568776146	chr10:95546332-95546333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528581070	chr10:95546344-95546345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548637501	chr10:95546345-95546346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568578822	chr10:95546355-95546356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs56167342	chr10:95546363-95546364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551326680	chr10:95546410-95546411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552206079	chr10:95546412-95546413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs60534660	chr10:95546421-95546422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571147981	chr10:95546466-95546467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184341481	chr10:95546480-95546481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189590211	chr10:95546481-95546482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs386508289	chr10:95546495-95546496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552694638	chr10:95546531-95546532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141160069	chr10:95546533-95546534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Breast cancer	21364760	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
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
Intracranial aneurysm	16715129	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:95528600-95559600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr10:95530000-95554800	Weak transcription	Brain Hippocampus Middle	brain
3	chr10:95530400-95549400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr10:95530600-95558000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr10:95535000-95554600	Weak transcription	Brain Anterior Caudate	brain
6	chr10:95537000-95546600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr10:95539600-95550000	Weak transcription	Fetal Stomach	stomach
8	chr10:95540400-95547000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr10:95544600-95545400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr10:95545200-95545400	Enhancers	HSMMtube	muscle
11	chr10:95545200-95546800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr10:95545400-95546000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr10:95545600-95547600	Weak transcription	HSMMtube	muscle
14	chr10:95546000-95549000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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