Variant report

Variant	nsv531097
Chromosome Location	chrX:29731388-29759068
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 356 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:356 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563853978	chrX:29731409-29731410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs5928161	chrX:29731473-29731474	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs185241159	chrX:29731492-29731493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190120876	chrX:29731592-29731593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201925675	chrX:29731714-29731715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs111920945	chrX:29731914-29731915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs66790051	chrX:29732166-29732167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182295119	chrX:29732173-29732174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs67046843	chrX:29732305-29732306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs547805275	chrX:29732325-29732326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs544253267	chrX:29732387-29732388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs148585260	chrX:29732404-29732405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs562571255	chrX:29732516-29732517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs372068097	chrX:29732591-29732592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs529684437	chrX:29732689-29732690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs4128144	chrX:29733052-29733053	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs150602525	chrX:29733077-29733078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs368969474	chrX:29733086-29733087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs139798517	chrX:29733144-29733145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs548221508	chrX:29733153-29733154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs373205912	chrX:29733229-29733230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186506013	chrX:29733250-29733251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7471174	chrX:29733253-29733254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs5901929	chrX:29733262-29733263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570168084	chrX:29733274-29733275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs4128143	chrX:29733337-29733338	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs28671286	chrX:29733375-29733376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs568211261	chrX:29733376-29733377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs140354435	chrX:29733514-29733515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189689648	chrX:29733547-29733548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs180895341	chrX:29733559-29733560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185499784	chrX:29733649-29733650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369944997	chrX:29733739-29733740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144094808	chrX:29733769-29733770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs67517606	chrX:29733802-29733803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149101734	chrX:29733919-29733920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191390968	chrX:29734175-29734176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183147518	chrX:29734299-29734300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188582032	chrX:29734344-29734345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191689327	chrX:29734361-29734362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs7472139	chrX:29734428-29734429	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs7472212	chrX:29734467-29734468	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs183929086	chrX:29734505-29734506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs141246752	chrX:29734687-29734688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs146966485	chrX:29734758-29734759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575739108	chrX:29734813-29734814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs377256789	chrX:29734900-29734901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187781346	chrX:29735013-29735014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191088635	chrX:29735047-29735048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370145684	chrX:29735114-29735115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
Breast cancer	21364760	CNVD
Mental retardation	17406619	CNVD
Pancreatic cancer	17952125	CNVD
Mental retardation	20613765	CNVD
Disorders of sex development	22290220	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
Gastric adenocarcinoma	19115996	CNVD
Duchenne-like muscular dystrophy	22470819	CNVD
Muscular dystrophy	22470819	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:29714800-29731600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chrX:29731600-29732400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chrX:29731600-29733200	Enhancers	Brain Angular Gyrus	brain
4	chrX:29732400-29746600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chrX:29742800-29743600	Enhancers	Brain Inferior Temporal Lobe	brain
6	chrX:29745400-29746000	Enhancers	Brain Hippocampus Middle	brain
7	chrX:29746400-29746600	Enhancers	Fetal Heart	heart
8	chrX:29746400-29747200	Enhancers	Brain Substantia Nigra	brain
9	chrX:29746600-29747200	Enhancers	HMEC	breast
10	chrX:29746600-29747400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chrX:29746600-29747600	Weak transcription	Fetal Heart	heart
12	chrX:29746800-29747200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chrX:29747400-29750800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chrX:29747600-29748200	Enhancers	Fetal Heart	heart
15	chrX:29749600-29750800	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chrX:29749600-29750800	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chrX:29749600-29750800	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chrX:29749800-29750800	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chrX:29750600-29751000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chrX:29750800-29751600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chrX:29751600-29764600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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