Variant report

Variant	esv3392306
Chromosome Location	chrX:56342980-56430729
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 979 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:979 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140924130	chrX:56343017-56343018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs190502220	chrX:56343177-56343178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375319663	chrX:56343233-56343234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183093200	chrX:56343235-56343236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571340724	chrX:56343263-56343264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188035028	chrX:56343331-56343332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs146313478	chrX:56343439-56343440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192651289	chrX:56343517-56343518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182717301	chrX:56343626-56343627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs139051455	chrX:56343701-56343702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187868607	chrX:56343725-56343726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192710055	chrX:56343742-56343743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs6417940	chrX:56344104-56344105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs111751958	chrX:56344192-56344193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184927580	chrX:56344264-56344265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs146169003	chrX:56344403-56344404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs5914614	chrX:56344465-56344466	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs60232322	chrX:56344583-56344584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs56221118	chrX:56344647-56344648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs6521385	chrX:56344706-56344707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188913830	chrX:56344746-56344747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192227084	chrX:56344882-56344883	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs6521386	chrX:56344903-56344904	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs184786528	chrX:56345013-56345014	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs375450057	chrX:56345035-56345036	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs6521387	chrX:56345078-56345079	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs180827427	chrX:56345079-56345080	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs6521388	chrX:56345127-56345128	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs372080971	chrX:56345251-56345252	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs143895986	chrX:56345272-56345273	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs186113235	chrX:56345355-56345356	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs34315286	chrX:56345450-56345451	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs6521389	chrX:56345505-56345506	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs189311373	chrX:56345538-56345539	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs376421858	chrX:56345671-56345672	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs181722787	chrX:56345775-56345776	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs56123917	chrX:56345822-56345823	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs186282232	chrX:56345857-56345858	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs139348864	chrX:56345936-56345937	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs190355860	chrX:56346104-56346105	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs183522794	chrX:56346106-56346107	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs6612516	chrX:56346204-56346205	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs36054762	chrX:56346207-56346208	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs377414670	chrX:56346341-56346342	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs369530357	chrX:56346348-56346349	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs532320640	chrX:56346350-56346351	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs186457914	chrX:56346432-56346433	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs191354436	chrX:56346511-56346512	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs386825335	chrX:56346571-56346572	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs375663605	chrX:56346572-56346573	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:42)

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

Chromatin state (count:209 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:56332800-56344000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chrX:56337200-56344800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chrX:56344800-56345600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chrX:56345000-56346600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
5	chrX:56367600-56367800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chrX:56367600-56367800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chrX:56367600-56367800	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chrX:56367600-56367800	Enhancers	Dnd41	blood
9	chrX:56367800-56368400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chrX:56368000-56368200	Enhancers	Primary T cells fromperipheralblood	blood
11	chrX:56368000-56369000	Weak transcription	Dnd41	blood
12	chrX:56368000-56369200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chrX:56368000-56369200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chrX:56368000-56370400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chrX:56368200-56368800	Weak transcription	Primary T cells fromperipheralblood	blood
16	chrX:56368400-56371000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chrX:56368400-56371200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chrX:56368600-56372200	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chrX:56368800-56370200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chrX:56368800-56370600	Enhancers	Primary T cells fromperipheralblood	blood
21	chrX:56369000-56370200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chrX:56369000-56371000	Enhancers	Dnd41	blood
23	chrX:56369000-56372800	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chrX:56369000-56373000	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chrX:56369200-56370600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chrX:56369200-56371000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chrX:56369200-56371600	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chrX:56369400-56369600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
29	chrX:56369400-56369800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chrX:56369400-56370400	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chrX:56369400-56370600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chrX:56369800-56370200	Bivalent Enhancer	Lung	lung
33	chrX:56369800-56370600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chrX:56369800-56370600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chrX:56370000-56370600	Enhancers	Primary hematopoietic stem cells	blood
36	chrX:56370200-56370600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
37	chrX:56370200-56370600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
38	chrX:56370400-56370600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chrX:56370600-56370800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chrX:56370600-56371600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chrX:56370600-56372200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chrX:56370800-56371000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
43	chrX:56371000-56373200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chrX:56371600-56372000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chrX:56372000-56372600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chrX:56390200-56393400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chrX:56390400-56391200	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chrX:56390600-56396000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chrX:56390800-56396000	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chrX:56390800-56396000	Enhancers	Primary T helper cells PMA-I stimulated	--

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