Variant report

Variant	esv3373686
Chromosome Location	chrX:109931496-109934444
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chrX:109919116..109920694-chrX:109934035..109936936,2	K562	blood:

Extended variants
information (count: 89 )
Associated
traits (count: 44 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192068376	chrX:109931721-109931722	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs144368956	chrX:109931743-109931744	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs5943052	chrX:109931799-109931800	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs369229430	chrX:109931817-109931818	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs5943053	chrX:109931856-109931857	Enhancers Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs372233352	chrX:109931861-109931862	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs377115708	chrX:109931862-109931863	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs142726669	chrX:109931901-109931902	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs202226128	chrX:109931906-109931907	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs398122851	chrX:109931938-109931939	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs151004691	chrX:109931975-109931976	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs387906713	chrX:109932028-109932029	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369988118	chrX:109932040-109932041	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375740308	chrX:109932216-109932217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201389698	chrX:109932290-109932291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs5985305	chrX:109932295-109932296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs199675383	chrX:109932299-109932300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs146457344	chrX:109932300-109932301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs5985542	chrX:109932305-109932306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs56307779	chrX:109932307-109932308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563005917	chrX:109932309-109932310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192976309	chrX:109932323-109932324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12006632	chrX:109932462-109932463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs55785948	chrX:109932483-109932484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12007570	chrX:109932490-109932491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs55937617	chrX:109932491-109932492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184831415	chrX:109932615-109932616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200826006	chrX:109932627-109932628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372431396	chrX:109932639-109932640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs34617254	chrX:109932642-109932643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs35285626	chrX:109932644-109932645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184754738	chrX:109932650-109932651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189617527	chrX:109932652-109932653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs34067592	chrX:109932670-109932671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181711726	chrX:109932676-109932677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs35829544	chrX:109932686-109932687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190057703	chrX:109932688-109932689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181179104	chrX:109932694-109932695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs185485453	chrX:109932718-109932719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs34913048	chrX:109932727-109932728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189565653	chrX:109932742-109932743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181008320	chrX:109932766-109932767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs186251127	chrX:109932772-109932773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs191007907	chrX:109932788-109932789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113853226	chrX:109932794-109932795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs34206947	chrX:109932797-109932798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368310232	chrX:109932798-109932799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183356624	chrX:109932800-109932801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200550258	chrX:109932818-109932819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs62595800	chrX:109932824-109932825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:44)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Burkitt''s lymphoma	20823134	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	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
Autism	22495311	CNVD
Cancer	20581869	CNVD
Multiple myeloma	20724749	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular germ cell tumor	18059402	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
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	22429812	CNVD
Cancer	16751803	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Multiple myeloma	17550852	CNVD
Cerebellar hypoplasia	21569638	CNVD
X-linked lissencephaly	21569638	CNVD
Pelizaeus-Merzbacher disease	18923514	CNVD
Pelizaeus-Merzbacher disease	22241247	CNVD
Cervical cancer	21062161	CNVD
Myxofibrosarcoma	16751306	CNVD
Pelizaeus-Merzbacher disease	22470819	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Astrocytoma	22246337	CNVD
Hirschsprung''s Disease	21712996	CNVD
X-linked lissencephaly	21572526	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:109910800-109936600	Weak transcription	Primary hematopoietic stem cells	blood
2	chrX:109919400-109938200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chrX:109919400-109948800	Weak transcription	Adipose Nuclei	Adipose
4	chrX:109928000-109931800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chrX:109928200-109936200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chrX:109931200-109932200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chrX:109931800-109932200	Enhancers	H9 Cell Line	embryonic stem cell
8	chrX:109932200-109933600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chrX:109933600-109935000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chrX:109934000-109935000	Weak transcription	Colon Smooth Muscle	Colon
11	chrX:109934000-109936000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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