Variant report

Variant	nsv829403
Chromosome Location	chrX:139023256-139028094
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chrX:139026564-139026813	K562	blood:	n/a	n/a
2	CEBPB	chrX:139026466-139026843	Hela-S3	cervix:	n/a	chrX:139026637-139026648
3	CEBPB	chrX:139026596-139026668	IMR90	lung:	n/a	chrX:139026637-139026648
4	CEBPB	chrX:139026564-139026848	MCF-7	breast:	n/a	chrX:139026637-139026648
5	CEBPB	chrX:139026506-139026809	HepG2	liver:	n/a	chrX:139026637-139026648
6	CEBPB	chrX:139026519-139026829	K562	blood:	n/a	chrX:139026637-139026648
7	CEBPB	chrX:139026542-139026744	K562	blood:	n/a	chrX:139026637-139026648
8	CEBPB	chrX:139026487-139026778	MCF-7	breast:	n/a	chrX:139026637-139026648
9	CTCF	chrX:139024104-139024165	GM10248	blood:	n/a	n/a
10	EP300	chrX:139026498-139026817	K562	blood:	n/a	chrX:139026802-139026811
11	FOS	chrX:139026573-139026858	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chrX:139026633-139026787	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chrX:139026623-139026757	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chrX:139026552-139026847	MCF10A-Er-Src	breast:	n/a	n/a
15	GATA1	chrX:139026390-139026983	K562	blood:	n/a	chrX:139026964-139026971 chrX:139026803-139026813
16	GATA3	chrX:139026454-139026918	MCF-7	breast:	n/a	chrX:139026803-139026813
17	GATA3	chrX:139026568-139026765	T-47D	breast:	n/a	n/a
18	GATA3	chrX:139026545-139027010	MCF-7	breast:	n/a	chrX:139026964-139026971 chrX:139026803-139026813
19	GATA3	chrX:139026562-139026875	MCF-7	breast:	n/a	chrX:139026803-139026813
20	JUND	chrX:139026590-139026814	K562	blood:	n/a	n/a
21	MYC	chrX:139023542-139023585	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chrX:139027853-139027946	HUVEC	blood vessel:	n/a	n/a
23	POLR2A	chrX:139027000-139027066	ProgFib	skin:	n/a	n/a
24	RCOR1	chrX:139026545-139026863	K562	blood:	n/a	n/a
25	SIN3AK20	chrX:139026316-139027061	MCF-7	breast:	n/a	n/a
26	STAT3	chrX:139026769-139026860	MCF10A-Er-Src	breast:	n/a	n/a
27	STAT3	chrX:139025871-139026050	MCF10A-Er-Src	breast:	n/a	n/a
28	TEAD4	chrX:139026492-139026839	MCF-7	breast:	n/a	n/a
29	ZNF384	chrX:139026459-139026810	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chrX:139013823..139015726-chrX:139026324..139028127,2	MCF-7	breast:
2	chrX:139012968..139015959-chrX:139025319..139027356,3	K562	blood:
3	chrX:139014609..139017121-chrX:139022655..139025086,4	K562	blood:
4	chrX:139013685..139018003-chrX:139020790..139025086,5	K562	blood:

Variant related genes	Relation type
ATP11C	TF binding region
ENSG00000101974	chromatin interactions

Extended variants
information (count: 82 )
Associated
traits (count: 44 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12556020	chrX:139023283-139023284	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs573603920	chrX:139023346-139023347	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs5907455	chrX:139023437-139023438	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs5907456	chrX:139023443-139023444	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs180787798	chrX:139023467-139023468	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs538863638	chrX:139023565-139023566	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs186222046	chrX:139023571-139023572	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs73583748	chrX:139023679-139023680	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs78689403	chrX:139023830-139023831	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs149246190	chrX:139023847-139023848	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs191940100	chrX:139023855-139023856	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs184239396	chrX:139023953-139023954	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs111994570	chrX:139024010-139024011	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs369805530	chrX:139024080-139024081	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs78907114	chrX:139024081-139024082	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs541294611	chrX:139024208-139024209	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs143423605	chrX:139024281-139024282	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs371343530	chrX:139024294-139024295	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs200065836	chrX:139024410-139024411	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs200202150	chrX:139024476-139024477	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs77121264	chrX:139024477-139024478	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs398102242	chrX:139024479-139024480	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs10558932	chrX:139024480-139024481	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs186453508	chrX:139024655-139024656	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs77603162	chrX:139024691-139024692	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs398087957	chrX:139024696-139024697	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs5908746	chrX:139024702-139024703	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs73243401	chrX:139024882-139024883	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs190489670	chrX:139024975-139024976	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs7064551	chrX:139025044-139025045	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs183096327	chrX:139025056-139025057	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs78436085	chrX:139025109-139025110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs150856499	chrX:139025273-139025274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs187074998	chrX:139025284-139025285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs139280679	chrX:139025335-139025336	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs192975217	chrX:139025511-139025512	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs372195871	chrX:139025579-139025580	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs4363374	chrX:139025700-139025701	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs145193809	chrX:139025720-139025721	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs148804932	chrX:139025808-139025809	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs182531110	chrX:139025835-139025836	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs143885147	chrX:139025857-139025858	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs188044123	chrX:139025909-139025910	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs376809705	chrX:139025965-139025966	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs146868798	chrX:139025988-139025989	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs140677365	chrX:139025992-139025993	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs551664596	chrX:139026012-139026013	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs145749991	chrX:139026036-139026037	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs192328979	chrX:139026216-139026217	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs185519443	chrX:139026309-139026310	Inactive region	Chromatin interactive region	1 gene(s)	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
Cancer	20581869	CNVD
Multiple myeloma	20724749	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	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
Cancer	16751803	CNVD
small cell lung cancer	20016488	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	17603634	CNVD
abnormal development	18461090	CNVD
Multiple myeloma	17550852	CNVD
Premature ovarian failure	20952765	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Hereditary coagulopathy	21993689	CNVD
Cerebellar atrophy	21569638	CNVD
Fragile x	21569638	CNVD
Abnormal corpus callosum	21572526	CNVD
Congenital diaphragmatic hernia	21525063	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:139024800-139026200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chrX:139026600-139027200	Enhancers	Liver	Liver

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