Variant report

Variant	esv13189
Chromosome Location	chrX:154778514-154782563
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chrX:154782148-154782348	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
TMLHE	TF binding region

Extended variants
information (count: 50 )
Associated
traits (count: 70 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375726373	chrX:154778518-154778519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs140783245	chrX:154778532-154778533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142416933	chrX:154778572-154778573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192238696	chrX:154778589-154778590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs151295206	chrX:154778590-154778591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs370053824	chrX:154778626-154778627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184257794	chrX:154778654-154778655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs140639139	chrX:154778799-154778800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188827033	chrX:154778867-154778868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182177760	chrX:154778901-154778902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187218075	chrX:154778931-154778932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs370473372	chrX:154779080-154779081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189177740	chrX:154779087-154779088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs73577059	chrX:154779104-154779105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs180875567	chrX:154779256-154779257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186505226	chrX:154779407-154779408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190173753	chrX:154779447-154779448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182580650	chrX:154779494-154779495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186167589	chrX:154779507-154779508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190484327	chrX:154779550-154779551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs6642286	chrX:154779570-154779571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs35080990	chrX:154779718-154779719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs146437731	chrX:154779798-154779799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183904013	chrX:154779847-154779848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189049559	chrX:154779865-154779866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373661174	chrX:154779947-154779948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12688786	chrX:154779966-154779967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192486096	chrX:154780060-154780061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182772574	chrX:154780164-154780165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187110356	chrX:154780280-154780281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs6642287	chrX:154780283-154780284	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs138602163	chrX:154780450-154780451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191771237	chrX:154780630-154780631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112261922	chrX:154780671-154780672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370034111	chrX:154780672-154780673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs5940488	chrX:154780734-154780735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183853386	chrX:154780750-154780751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs5940489	chrX:154780920-154780921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs148032091	chrX:154780954-154780955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113082797	chrX:154781029-154781030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200761825	chrX:154781198-154781199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs73577065	chrX:154781288-154781289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs193013924	chrX:154781318-154781319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs6567761	chrX:154781533-154781534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113189196	chrX:154781667-154781668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs6567762	chrX:154781700-154781701	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs185734734	chrX:154781987-154781988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs5983722	chrX:154782090-154782091	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs371077305	chrX:154782106-154782107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs35253606	chrX:154782546-154782547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Burkitt''s lymphoma	20823134	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Astrocytoma	17387387	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Metanephric adenoma	20802469	CNVD
Medulloblastoma	21979893	CNVD
Schizophrenia	23904455	CNVD
Olfactory neuroblastoma	18408657	CNVD
infertile	22614455	CNVD
lymphocytic leukemia	21291569	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
Cancer	16751803	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
abnormal development	18461090	CNVD
Premature ovarian failure	20952765	CNVD
Abnormal corpus callosum	21572526	CNVD
Breast cancer	21364760	CNVD
Astrocytoma	22246337	CNVD
Cerebellar atrophy	21569638	CNVD
periventricular nodular heterotopia	21572526	CNVD
Cerebellar hypoplasia	21569638	CNVD
Hoyeraal-Hreidarsson syndrome	21569638	CNVD
Oto-palato-digital type II	21569638	CNVD
incontinentia pigmenti anhidrotic ectodermal dysplasia with immunodeficiency	18350553	CNVD
Aqueductal stenosis	21572526	CNVD
Hirschsprung''s Disease	21712996	CNVD
Vermis hypoplasia	21569638	CNVD
X-linked hydrocephalus	21569638	CNVD
Rett syndrome	21569638	CNVD
Austim spectrum disorder	21302340	CNVD
Autism	20970697	CNVD
Epilepsy	20970697	CNVD
Hemophilia A	17823971	CNVD
Rett syndrome	18923514	CNVD
Rett syndrome	22241247	CNVD
Intellectual disability	21984752	CNVD
Mental retardation	19951919	CNVD
Hypotonia	17088400	CNVD
Intellectual disability	22511893	CNVD
Mental retardation	17088400	CNVD
Mental retardation	21119712	CNVD
Neurodevelopmental disorder	19324899	CNVD
Recurrent Infections	17088400	CNVD
Rett syndrome	22283845	CNVD
Rett syndrome	21383316	CNVD
Cryptorchidism	21048976	CNVD
Disorders of sex development	21048976	CNVD
Cervical cancer	21062161	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
Hemophilia A	18787571	CNVD
Hunters syndrom	18787571	CNVD
Prader-willi syndrome	20588305	CNVD
Mental retardation	19057379	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
abortions and stillbirths	19751515	CNVD
Hereditary coagulopathy	21993689	CNVD
Intellectual disability	23615299	CNVD
Acute lymphoblastic leukemia	22581003	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:154757000-154785800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chrX:154773800-154787000	Weak transcription	Brain Angular Gyrus	brain
3	chrX:154774600-154779200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chrX:154774800-154778600	Weak transcription	Brain Germinal Matrix	brain
5	chrX:154775000-154785600	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chrX:154775000-154787600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chrX:154775800-154790600	Weak transcription	Primary B cells from cord blood	blood
8	chrX:154779600-154779800	Weak transcription	Brain Germinal Matrix	brain

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