Variant report

Variant	nsv525602
Chromosome Location	chrX:32853265-32859026
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 129 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:129 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs5972686	chrX:32853265-32853266	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs187670708	chrX:32853333-32853334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190848170	chrX:32853380-32853381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182305861	chrX:32853391-32853392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376686554	chrX:32853433-32853434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138179066	chrX:32853531-32853532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564022049	chrX:32853569-32853570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs370075509	chrX:32853574-32853575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184983896	chrX:32853603-32853604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs149533832	chrX:32853709-32853710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs59227649	chrX:32853722-32853723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547250895	chrX:32853743-32853744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs189593633	chrX:32853850-32853851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs182581979	chrX:32853879-32853880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187818362	chrX:32853889-32853890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369606804	chrX:32853902-32853903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140612928	chrX:32853957-32853958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375126920	chrX:32854031-32854032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs193156900	chrX:32854061-32854062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183415896	chrX:32854082-32854083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538780229	chrX:32854099-32854100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189200781	chrX:32854138-32854139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201726364	chrX:32854147-32854148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs202236790	chrX:32854155-32854156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs144378177	chrX:32854235-32854236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs35824597	chrX:32854273-32854274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs11095242	chrX:32854274-32854275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200071842	chrX:32854316-32854317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531372087	chrX:32854376-32854377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs192456400	chrX:32854396-32854397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184799509	chrX:32854401-32854402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536289338	chrX:32854409-32854410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188347828	chrX:32854515-32854516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191277036	chrX:32854578-32854579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184908368	chrX:32854674-32854675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189567604	chrX:32854746-32854747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs5928086	chrX:32854769-32854770	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs182159814	chrX:32854783-32854784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186680852	chrX:32854860-32854861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376576105	chrX:32855061-32855062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs150929545	chrX:32855116-32855117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs140665804	chrX:32855172-32855173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs149667955	chrX:32855235-32855236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs372693031	chrX:32855254-32855255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs145393289	chrX:32855282-32855283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs141444857	chrX:32855383-32855384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs145100813	chrX:32855386-32855387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs189426045	chrX:32855408-32855409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs138977786	chrX:32855444-32855445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs181945141	chrX:32855467-32855468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Cancer	16751803	CNVD
Intellectual disability	23615299	CNVD
Neuroblastoma	18923191	CNVD
Burkitt''s lymphoma	20823134	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
Autism	22495311	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute myeloid leukemia	21251322	CNVD
Cancer	20581869	CNVD
Multiple myeloma	20724749	CNVD
Breast cancer	21858162	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Cancer	20164919	CNVD
Premature ovarian failure	20952765	CNVD
Ovarian cancer	19835627	CNVD
Cerebellar hypoplasia	21569638	CNVD
X-linked lissencephaly	21569638	CNVD
Thyroid cancer	19087340	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Developmental delay	21147756	CNVD
Mental retardation	17406619	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Cancer	20164920	CNVD
Gastric cancer	17229543	CNVD
Type 2 diabetes	21760887	CNVD
Cardiomyopathy	22138850	CNVD
Muscular dystrophy	21149563	CNVD
Skeletal myopathy	22138850	CNVD
Autism	21484199	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute lymphoblastic leukemia	19039135	CNVD
Duchenne-like muscular dystrophy	22138850	CNVD
Muscular dystrophy	22138850	CNVD
Disease	22090376	CNVD
Colorectal cancer	21645411	CNVD
Ornithine transcarbamylase deficiency	21467225	CNVD
Myxofibrosarcoma	16751306	CNVD
Alcoholism	21790672	CNVD
Chronic granulomatous disease	22383943	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21611746	CNVD
Duchenne and Becker muscular dystrophies	18663755	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:32832400-32862200	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chrX:32848800-32862800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chrX:32853600-32853800	Enhancers	Fetal Heart	heart
4	chrX:32853800-32855200	Weak transcription	Fetal Heart	heart
5	chrX:32855000-32869400	Weak transcription	HSMMtube	muscle
6	chrX:32855200-32856200	Enhancers	Fetal Heart	heart
7	chrX:32857200-32857800	Enhancers	Primary hematopoietic stem cells	blood
8	chrX:32858800-32869000	Weak transcription	Skeletal Muscle Male	skeletal muscle

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