Variant report

Variant	nsv818020
Chromosome Location	chrX:29792108-29824189
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 250 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:250 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11095160	chrX:29792108-29792109	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs186952891	chrX:29792229-29792230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs557580403	chrX:29792254-29792255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs11798343	chrX:29792494-29792495	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs543655655	chrX:29792528-29792529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190833607	chrX:29792617-29792618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183386482	chrX:29792729-29792730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs141878023	chrX:29792800-29792801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs150145440	chrX:29792812-29792813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs186567066	chrX:29792902-29792903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574284536	chrX:29792983-29792984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs370372108	chrX:29793064-29793065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs111300472	chrX:29793095-29793096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs189778129	chrX:29793144-29793145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs373065246	chrX:29793213-29793214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs142794694	chrX:29793232-29793233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs147443943	chrX:29793266-29793267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs139721887	chrX:29793269-29793270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs182783763	chrX:29793367-29793368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs374898865	chrX:29793425-29793426	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149457871	chrX:29793465-29793466	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188245599	chrX:29793527-29793528	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192785382	chrX:29793597-29793598	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185219429	chrX:29793643-29793644	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs187603132	chrX:29793956-29793957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547385368	chrX:29793964-29793965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs192417107	chrX:29794062-29794063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566109057	chrX:29794066-29794067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs35559798	chrX:29794085-29794086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs143856019	chrX:29794142-29794143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs148641422	chrX:29794200-29794201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs142131783	chrX:29794255-29794256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184969156	chrX:29794462-29794463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188119107	chrX:29794469-29794470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs180900020	chrX:29794527-29794528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184544996	chrX:29794783-29794784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146688364	chrX:29794794-29794795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs140153653	chrX:29794797-29794798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189819890	chrX:29794929-29794930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs202192485	chrX:29794981-29794982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181422239	chrX:29795055-29795056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs72625540	chrX:29795139-29795140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs79136457	chrX:29795231-29795232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567960132	chrX:29795398-29795399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs377574201	chrX:29795458-29795459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs146881691	chrX:29795505-29795506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs5928341	chrX:29795584-29795585	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs150408670	chrX:29795713-29795714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs370734183	chrX:29795826-29795827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373237415	chrX:29795909-29795910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

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
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

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:29781000-29793000	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chrX:29791000-29793200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chrX:29791200-29793000	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chrX:29791800-29792400	Enhancers	Fetal Heart	heart
5	chrX:29792400-29792800	Weak transcription	Fetal Heart	heart
6	chrX:29792800-29793600	Enhancers	Fetal Heart	heart
7	chrX:29793000-29793800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chrX:29793000-29793800	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chrX:29793200-29793400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chrX:29793200-29793600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chrX:29793200-29793600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chrX:29793400-29799000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chrX:29799000-29800400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chrX:29800400-29807400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chrX:29805000-29806600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chrX:29807200-29807600	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chrX:29807400-29807800	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chrX:29807400-29808200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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