Variant report

Variant	esv1004126
Chromosome Location	chrX:63870992-63876684
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 39 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189000804	chrX:63873220-63873221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs181441714	chrX:63873227-63873228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs186277171	chrX:63873260-63873261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs192133483	chrX:63873352-63873353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs182737458	chrX:63873364-63873365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs186078688	chrX:63873366-63873367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs386825538	chrX:63873367-63873368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs191289526	chrX:63873418-63873419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs371015788	chrX:63873433-63873434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs147374880	chrX:63873444-63873445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs536230769	chrX:63873447-63873448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs139575829	chrX:63873499-63873500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs375476141	chrX:63873523-63873524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs149923807	chrX:63873531-63873532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs182609682	chrX:63873543-63873544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs145002486	chrX:63873583-63873584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs187030803	chrX:63873630-63873631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs192237598	chrX:63873725-63873726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs544904898	chrX:63876030-63876031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs190583527	chrX:63876044-63876045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs200490705	chrX:63876045-63876046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs556936902	chrX:63876058-63876059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs182303589	chrX:63876289-63876290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs146903209	chrX:63876322-63876323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs371718070	chrX:63876438-63876439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs186083894	chrX:63876496-63876497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs139387145	chrX:63876497-63876498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs572818609	chrX:63876498-63876499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs142679524	chrX:63876503-63876504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs191083084	chrX:63876535-63876536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs182156251	chrX:63876541-63876542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs185713427	chrX:63876558-63876559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs190080812	chrX:63876601-63876602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:39)

Disease	PMID	Source
Intellectual disability	23615299	CNVD
Neuroblastoma	18923191	CNVD
Burkitt''s lymphoma	20823134	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Astrocytoma	17387387	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Metanephric adenoma	20802469	CNVD
Medulloblastoma	21979893	CNVD
Schizophrenia	23904455	CNVD
Olfactory neuroblastoma	18408657	CNVD
infertile	22614455	CNVD
Acute myeloid leukemia	20729466	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	22286061	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	CNVD
Cancer	20581869	CNVD
Multiple myeloma	20724749	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Follicular lymphoma	20505157	CNVD
primary effusion lymphomas	17116491	CNVD
Testicular germ cell tumor	18059402	CNVD
Testicular cancer	18059402	CNVD
Seminomas	18059402	CNVD
Wilms tumour	17204608	CNVD
craniofacial dysmorphism	21918468	CNVD
Astrocytoma	22246337	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
turner syndrome	20570968	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:63873200-63873800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chrX:63876000-63876400	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chrX:63876400-63876800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
4	chrX:63876400-63877200	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chrX:63876400-63877600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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