Variant report

Variant	esv3362547
Chromosome Location	chrX:154552758-154557906
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chrX:154555033..154557825-chrX:154560328..154562528,2	K562	blood:
2	chrX:154556106..154557825-chrX:154560786..154562528,2	K562	blood:
3	chrX:154443547..154446264-chrX:154555865..154558025,2	K562	blood:

Variant related genes	Relation type
ENSG00000155959	chromatin interactions

Extended variants
information (count: 54 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149528773	chrX:154552778-154552779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs144686411	chrX:154552783-154552784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs113755925	chrX:154552852-154552853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184269297	chrX:154553072-154553073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188593485	chrX:154553097-154553098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs113630132	chrX:154553268-154553269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113174221	chrX:154553354-154553355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs148503801	chrX:154553390-154553391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs12396671	chrX:154553540-154553541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs202190443	chrX:154553621-154553622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200298796	chrX:154553622-154553623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201095718	chrX:154553624-154553625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372302115	chrX:154553636-154553637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs111372581	chrX:154553718-154553719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs7052359	chrX:154553751-154553752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs146090688	chrX:154553756-154553757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs9845342	chrX:154554188-154554189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184414783	chrX:154554279-154554280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140151386	chrX:154554491-154554492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541080	chrX:154554695-154554696	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189048248	chrX:154554763-154554764	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181777718	chrX:154554866-154554867	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs34255340	chrX:154555003-154555004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375658751	chrX:154555078-154555079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142242036	chrX:154555081-154555082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs60334475	chrX:154555118-154555119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187387295	chrX:154555334-154555335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs146833575	chrX:154555398-154555399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs524609	chrX:154555595-154555596	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs192094899	chrX:154555837-154555838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs150053350	chrX:154555867-154555868	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs144912227	chrX:154556178-154556179	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs180894562	chrX:154556226-154556227	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs149028161	chrX:154556284-154556285	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs145901604	chrX:154556335-154556336	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs185174584	chrX:154556617-154556618	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs79343404	chrX:154556693-154556694	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs190321940	chrX:154556741-154556742	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs182764457	chrX:154556818-154556819	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs375781057	chrX:154556870-154556871	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs147799675	chrX:154556935-154556936	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs495736	chrX:154557053-154557054	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs496740	chrX:154557160-154557161	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs371294065	chrX:154557208-154557209	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs187097137	chrX:154557229-154557230	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs116024322	chrX:154557251-154557252	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs183675912	chrX:154557503-154557504	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs59915761	chrX:154557599-154557600	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs188794304	chrX:154557604-154557605	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs193216297	chrX:154557640-154557641	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	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
small cell lung cancer	20016488	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
Alcoholism	21790672	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:154528600-154556000	Weak transcription	K562	blood
2	chrX:154554600-154555000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chrX:154556000-154556400	Strong transcription	K562	blood
4	chrX:154556400-154560000	Weak transcription	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links