Variant report

Variant	esv3404833
Chromosome Location	chr10:83452497-83455345
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538834334	chr10:83454219-83454220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs572198000	chr10:83454233-83454234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs73309357	chr10:83454282-83454283	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs544204728	chr10:83454315-83454316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs541163096	chr10:83454322-83454323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs373366377	chr10:83454323-83454324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs147661360	chr10:83454334-83454335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs78580331	chr10:83454339-83454340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs78976406	chr10:83454420-83454421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs192061295	chr10:83454463-83454464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs546950273	chr10:83454549-83454550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs532383009	chr10:83454610-83454611	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182328192	chr10:83454692-83454693	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs143270345	chr10:83454702-83454703	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186040365	chr10:83454770-83454771	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190502074	chr10:83454781-83454782	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547894152	chr10:83454807-83454808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182732209	chr10:83454824-83454825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs527270855	chr10:83454838-83454839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs547503890	chr10:83454848-83454849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570206383	chr10:83454882-83454883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538895766	chr10:83454885-83454886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs577520644	chr10:83455034-83455035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558681719	chr10:83455069-83455070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201938035	chr10:83455070-83455071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs140526293	chr10:83455082-83455083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543470331	chr10:83455098-83455099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187071561	chr10:83455138-83455139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373609626	chr10:83455139-83455140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554685791	chr10:83455145-83455146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566636660	chr10:83455146-83455147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189995336	chr10:83455176-83455177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538856055	chr10:83455232-83455233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540249355	chr10:83455242-83455243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs554280868	chr10:83455284-83455285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs117591056	chr10:83455290-83455291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546022026	chr10:83455311-83455312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Thoracic aortic aneurysm	21092924	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
High-grade prostatic intraepithelial neoplasia	16573809	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
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	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
Urothelial carcinoma	21177765	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:83454200-83454600	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr10:83454200-83454800	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr10:83454200-83454800	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr10:83454400-83454600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr10:83454400-83454800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr10:83454600-83454800	Enhancers	H9 Cell Line	embryonic stem cell
7	chr10:83454600-83456400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr10:83454800-83456400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr10:83454800-83456400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr10:83454800-83456400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr10:83454800-83456600	Weak transcription	HUES64 Cell Line	embryonic stem cell

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