Variant report

Variant	esv3418796
Chromosome Location	chrX:109947796-109949744
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 44 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149246396	chrX:109947803-109947804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs189796036	chrX:109947822-109947823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs144467734	chrX:109947854-109947855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs181966964	chrX:109947884-109947885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs147979694	chrX:109947906-109947907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs371248868	chrX:109947913-109947914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs374045800	chrX:109947919-109947920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184702731	chrX:109947981-109947982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs367893739	chrX:109948021-109948022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs142495828	chrX:109948198-109948199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs35887684	chrX:109948205-109948206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs377014837	chrX:109948239-109948240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112310537	chrX:109948274-109948275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs6655129	chrX:109948321-109948322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs371709793	chrX:109948509-109948510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs10551964	chrX:109948510-109948511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs72196980	chrX:109948521-109948522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs373380739	chrX:109948540-109948541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs377379169	chrX:109948549-109948550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369577862	chrX:109948555-109948556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs373455826	chrX:109948556-109948557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376537981	chrX:109948564-109948565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370478885	chrX:109948568-109948569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374927371	chrX:109948569-109948570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs377341524	chrX:109948570-109948571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs10551965	chrX:109948571-109948572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113951251	chrX:109948639-109948640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200998741	chrX:109948658-109948659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs202091890	chrX:109948659-109948660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201117361	chrX:109948669-109948670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201730445	chrX:109948671-109948672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs199974211	chrX:109948672-109948673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201093523	chrX:109948673-109948674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs202141645	chrX:109948674-109948675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200175457	chrX:109948675-109948676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs2982578	chrX:109948679-109948680	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs371528761	chrX:109948681-109948682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374813072	chrX:109948685-109948686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374981389	chrX:109948693-109948694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369965325	chrX:109948696-109948697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs368871710	chrX:109948699-109948700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372317023	chrX:109948705-109948706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372362894	chrX:109948709-109948710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375822114	chrX:109948721-109948722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369964919	chrX:109948722-109948723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373150069	chrX:109948736-109948737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs377290937	chrX:109948740-109948741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs369247058	chrX:109948741-109948742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs141709709	chrX:109948784-109948785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs536600583	chrX:109948786-109948787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:44)

Disease	PMID	Source
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
Autism	22495311	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
Testicular germ cell tumor	18059402	CNVD
Testicular cancer	18059402	CNVD
Seminomas	18059402	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	22429812	CNVD
Cancer	16751803	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Multiple myeloma	17550852	CNVD
Cerebellar hypoplasia	21569638	CNVD
X-linked lissencephaly	21569638	CNVD
Pelizaeus-Merzbacher disease	18923514	CNVD
Pelizaeus-Merzbacher disease	22241247	CNVD
Cervical cancer	21062161	CNVD
Myxofibrosarcoma	16751306	CNVD
Pelizaeus-Merzbacher disease	22470819	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Astrocytoma	22246337	CNVD
Hirschsprung''s Disease	21712996	CNVD
X-linked lissencephaly	21572526	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:109919400-109948800	Weak transcription	Adipose Nuclei	Adipose
2	chrX:109942600-109964000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chrX:109942600-110008200	Weak transcription	Primary hematopoietic stem cells	blood

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