Variant report

Variant	esv3484678
Chromosome Location	chrX:154778050-154782616
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: 83 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78455779	chrX:154778118-154778119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs180945405	chrX:154778122-154778123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs5940486	chrX:154778123-154778124	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs6642284	chrX:154778134-154778135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186037681	chrX:154778161-154778162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190894371	chrX:154778163-154778164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs150762395	chrX:154778181-154778182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7887277	chrX:154778196-154778197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375119064	chrX:154778199-154778200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372805336	chrX:154778200-154778201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs377195826	chrX:154778205-154778206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs183034287	chrX:154778207-154778208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186301444	chrX:154778212-154778213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190810771	chrX:154778215-154778216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182993774	chrX:154778223-154778224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149530386	chrX:154778228-154778229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371897999	chrX:154778238-154778239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs144701823	chrX:154778239-154778240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188014982	chrX:154778241-154778242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192595421	chrX:154778250-154778251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs183926020	chrX:154778252-154778253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187632888	chrX:154778262-154778263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376735688	chrX:154778264-154778265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375738260	chrX:154778265-154778266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs5940487	chrX:154778278-154778279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369455186	chrX:154778289-154778290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs145325414	chrX:154778310-154778311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs5940381	chrX:154778352-154778353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs76007653	chrX:154778395-154778396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs192532169	chrX:154778486-154778487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184966528	chrX:154778490-154778491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188508769	chrX:154778513-154778514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375726373	chrX:154778518-154778519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs140783245	chrX:154778532-154778533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142416933	chrX:154778572-154778573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192238696	chrX:154778589-154778590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs151295206	chrX:154778590-154778591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370053824	chrX:154778626-154778627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184257794	chrX:154778654-154778655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs140639139	chrX:154778799-154778800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188827033	chrX:154778867-154778868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182177760	chrX:154778901-154778902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187218075	chrX:154778931-154778932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370473372	chrX:154779080-154779081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs189177740	chrX:154779087-154779088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs73577059	chrX:154779104-154779105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs180875567	chrX:154779256-154779257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186505226	chrX:154779407-154779408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190173753	chrX:154779447-154779448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182580650	chrX:154779494-154779495	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:11 , 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:154774400-154778200	Weak transcription	Primary B cells from peripheral blood	blood
4	chrX:154774600-154779200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chrX:154774800-154778200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chrX:154774800-154778600	Weak transcription	Brain Germinal Matrix	brain
7	chrX:154775000-154778200	Weak transcription	Fetal Lung	lung
8	chrX:154775000-154785600	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chrX:154775000-154787600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chrX:154775800-154790600	Weak transcription	Primary B cells from cord blood	blood
11	chrX:154779600-154779800	Weak transcription	Brain Germinal Matrix	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links