Variant report

Variant	esv3493951
Chromosome Location	chr10:37816474-37823591
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	chr10:37822844..37823593-chr8:38687776..38688471,2	K562	blood:
2	chr10:37822760..37823349-chr10:37996545..37997377,2	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs578015448	chr10:37823103-37823104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs199597451	chr10:37823138-37823139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs2505706	chr10:37823147-37823148	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs554313394	chr10:37823162-37823163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs574130175	chr10:37823167-37823168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs543346940	chr10:37823207-37823208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs575092534	chr10:37823231-37823232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs531211302	chr10:37823248-37823249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs544565739	chr10:37823264-37823265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs564657772	chr10:37823271-37823272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs207470813	chr10:37823313-37823314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539890204	chr10:37823317-37823318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs116972967	chr10:37823322-37823323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs182163418	chr10:37823338-37823339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567485025	chr10:37823366-37823367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs367800710	chr10:37823367-37823368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs186697644	chr10:37823384-37823385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs11597247	chr10:37823398-37823399	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs538250796	chr10:37823419-37823420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs190119088	chr10:37823444-37823445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs571672333	chr10:37823449-37823450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs534329537	chr10:37823482-37823483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs1830590	chr10:37823526-37823527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs181324710	chr10:37823537-37823538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs140154110	chr10:37823575-37823576	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:41)

Disease	PMID	Source
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
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
Behavioral abnormalities	21522184	CNVD
Dysmorphic features	21522184	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Bethlem myopathy	20302629	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Glioblastoma multiforme	22286061	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hepatocellular carcinoma	16785998	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	21364760	CNVD
Lung cancer	21569311	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:37823000-37825200	Enhancers	ES-I3 Cell Line	embryonic stem cell

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