Variant report

Variant	nsv524276
Chromosome Location	chrX:56369721-56443313
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1154 )
Associated
traits (count: 43 )

Variant overlapped rSNPs/rCNVs (count:1154 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6521411	chrX:56369721-56369722	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs6521412	chrX:56369730-56369731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs185434803	chrX:56369754-56369755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs5960697	chrX:56369779-56369780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs7473198	chrX:56369794-56369795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191617009	chrX:56369805-56369806	Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs183018273	chrX:56369817-56369818	Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs549324650	chrX:56369857-56369858	Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs6521413	chrX:56369881-56369882	Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs374835799	chrX:56369907-56369908	Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs111426738	chrX:56369918-56369919	Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs187724602	chrX:56369923-56369924	Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs192388200	chrX:56369951-56369952	Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs540298935	chrX:56369958-56369959	Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs183289973	chrX:56369960-56369961	Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs7473059	chrX:56369973-56369974	Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs188014709	chrX:56370019-56370020	Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs12011207	chrX:56370120-56370121	Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs192085535	chrX:56370134-56370135	Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs368879966	chrX:56370191-56370192	Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs7062367	chrX:56370250-56370251	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs184680134	chrX:56370336-56370337	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs149361872	chrX:56370361-56370362	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs112690756	chrX:56370420-56370421	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs142907024	chrX:56370493-56370494	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs187960748	chrX:56370521-56370522	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs547359406	chrX:56370589-56370590	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs370207144	chrX:56370598-56370599	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs5960696	chrX:56370602-56370603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs80272814	chrX:56370704-56370705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs77991378	chrX:56370777-56370778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs5960695	chrX:56370780-56370781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs5960694	chrX:56370784-56370785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs192816462	chrX:56370862-56370863	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs184804217	chrX:56370927-56370928	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs147393322	chrX:56370948-56370949	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs189313962	chrX:56370956-56370957	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs180925327	chrX:56371047-56371048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs184621287	chrX:56371135-56371136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs189484128	chrX:56371176-56371177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs139665484	chrX:56371212-56371213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs181550447	chrX:56371239-56371240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs67706227	chrX:56371246-56371247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs150546635	chrX:56371315-56371316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs368750732	chrX:56371316-56371317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs34468084	chrX:56371483-56371484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs538254904	chrX:56371659-56371660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371223532	chrX:56371677-56371678	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs5960161	chrX:56371704-56371705	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs1143233	chrX:56371737-56371738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:43)

Disease	PMID	Source
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
Glioblastoma multiforme	22286061	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	CNVD
Cancer	20581869	CNVD
Multiple myeloma	20724749	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
Thyroid cancer	19087340	CNVD
lymphocytic leukemia	21291569	CNVD
Cervical cancer	21062161	CNVD
Follicular lymphoma	20505157	CNVD
primary effusion lymphomas	17116491	CNVD
Testicular germ cell tumor	18059402	CNVD
Testicular cancer	18059402	CNVD
Seminomas	18059402	CNVD
Breast cancer	21785460	CNVD
Ovarian cancer	19835627	CNVD
Mental retardation	21735175	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:206 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:56368000-56370400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chrX:56368400-56371000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chrX:56368400-56371200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
4	chrX:56368600-56372200	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chrX:56368800-56370200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chrX:56368800-56370600	Enhancers	Primary T cells fromperipheralblood	blood
7	chrX:56369000-56370200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chrX:56369000-56371000	Enhancers	Dnd41	blood
9	chrX:56369000-56372800	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chrX:56369000-56373000	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chrX:56369200-56370600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chrX:56369200-56371000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chrX:56369200-56371600	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chrX:56369400-56369800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chrX:56369400-56370400	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chrX:56369400-56370600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chrX:56369800-56370200	Bivalent Enhancer	Lung	lung
18	chrX:56369800-56370600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chrX:56369800-56370600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chrX:56370000-56370600	Enhancers	Primary hematopoietic stem cells	blood
21	chrX:56370200-56370600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
22	chrX:56370200-56370600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
23	chrX:56370400-56370600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
24	chrX:56370600-56370800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chrX:56370600-56371600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chrX:56370600-56372200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chrX:56370800-56371000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
28	chrX:56371000-56373200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chrX:56371600-56372000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chrX:56372000-56372600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chrX:56390200-56393400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chrX:56390400-56391200	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chrX:56390600-56396000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chrX:56390800-56396000	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chrX:56390800-56396000	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chrX:56391200-56392000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chrX:56391400-56396000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chrX:56391600-56392200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
39	chrX:56391600-56392200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chrX:56391800-56392400	Enhancers	Dnd41	blood
41	chrX:56391800-56393000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chrX:56392000-56394600	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chrX:56392000-56396000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chrX:56392000-56396000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chrX:56392200-56392800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chrX:56392200-56393800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chrX:56392200-56396200	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chrX:56392400-56395000	Weak transcription	Dnd41	blood
49	chrX:56392800-56393600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
50	chrX:56393000-56393200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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