Variant report

Variant	nsv522610
Chromosome Location	chrX:29574022-29596864
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	ATF2	chrX:29573213-29574360	GM12878	blood:	n/a	n/a
2	ATF2	chrX:29573388-29574404	GM12878	blood:	n/a	n/a
3	BATF	chrX:29573454-29574266	GM12878	blood:	n/a	chrX:29573801-29573811
4	BATF	chrX:29573528-29574299	GM12878	blood:	n/a	chrX:29573801-29573811
5	BCL11A	chrX:29573430-29574319	GM12878	blood:	n/a	chrX:29573800-29573809 chrX:29573799-29573808 chrX:29573753-29573762
6	BCLAF1	chrX:29573360-29574154	GM12878	blood:	n/a	chrX:29573800-29573809 chrX:29573799-29573808 chrX:29573753-29573762
7	BCLAF1	chrX:29573491-29574181	GM12878	blood:	n/a	chrX:29573800-29573809 chrX:29573799-29573808 chrX:29573753-29573762
8	BHLHE40	chrX:29573417-29574342	GM12878	blood:	n/a	n/a
9	CEBPB	chrX:29579484-29579847	Hela-S3	cervix:	n/a	chrX:29579518-29579529
10	CEBPB	chrX:29573614-29574036	GM12878	blood:	n/a	n/a
11	CEBPB	chrX:29573344-29574225	GM12878	blood:	n/a	chrX:29574117-29574128 chrX:29574117-29574128
12	CEBPB	chrX:29579500-29579810	IMR90	lung:	n/a	chrX:29579518-29579529
13	CEBPB	chrX:29579446-29579722	HepG2	liver:	n/a	chrX:29579518-29579529
14	CHD2	chrX:29573499-29574235	GM12878	blood:	n/a	n/a
15	CREB1	chrX:29573444-29574154	GM12878	blood:	n/a	n/a
16	CREB1	chrX:29573448-29574368	GM12878	blood:	n/a	n/a
17	CTCF	chrX:29593341-29593348	GM10248	blood:	n/a	n/a
18	CTCF	chrX:29577661-29577708	GM10266	blood:	n/a	n/a
19	CTCF	chrX:29593260-29593334	GM10248	blood:	n/a	n/a
20	CTCF	chrX:29574127-29574241	GM19239	blood:	n/a	n/a
21	CTCF	chrX:29591156-29591193	GM10248	blood:	n/a	n/a
22	CTCF	chrX:29574185-29574228	GM19238	blood:	n/a	n/a
23	CTCF	chrX:29579328-29579402	ProgFib	skin:	n/a	n/a
24	CTCF	chrX:29579127-29579197	GM10248	blood:	n/a	n/a
25	CTCF	chrX:29591148-29591233	GM20000	blood:	n/a	n/a
26	CUX1	chrX:29573402-29574223	GM12878	blood:	n/a	n/a
27	EBF1	chrX:29573572-29574341	GM12878	blood:	n/a	n/a
28	EP300	chrX:29573587-29574079	GM12878	blood:	n/a	chrX:29573800-29573809 chrX:29573799-29573808 chrX:29573602-29573611 chrX:29574020-29574030
29	EP300	chrX:29573434-29574383	GM12878	blood:	n/a	chrX:29573800-29573809 chrX:29573799-29573808 chrX:29573602-29573611 chrX:29574020-29574030
30	EP300	chrX:29573555-29574236	GM12878	blood:	n/a	chrX:29573800-29573809 chrX:29573799-29573808 chrX:29573602-29573611 chrX:29574020-29574030
31	EP300	chrX:29573480-29574332	GM12878	blood:	n/a	chrX:29573800-29573809 chrX:29573799-29573808 chrX:29573602-29573611 chrX:29574020-29574030
32	EP300	chrX:29573494-29574466	GM12878	blood:	n/a	chrX:29573800-29573809 chrX:29573799-29573808 chrX:29573602-29573611 chrX:29574020-29574030
33	FOXM1	chrX:29573246-29574558	GM12878	blood:	n/a	n/a
34	FOXM1	chrX:29573398-29574410	GM12878	blood:	n/a	n/a
35	GATA2	chrX:29575965-29576352	HUVEC	blood vessel:	n/a	n/a
36	GATA3	chrX:29588603-29588894	T-47D	breast:	n/a	n/a
37	GATA3	chrX:29588620-29588984	SK-N-SH	brain:	n/a	n/a
38	IKZF1	chrX:29573613-29574563	GM12878	blood:	n/a	n/a
39	IRF4	chrX:29573490-29574337	GM12878	blood:	n/a	n/a
40	IRF4	chrX:29573470-29574098	GM12878	blood:	n/a	n/a
41	JUN	chrX:29587954-29588190	K562	blood:	n/a	n/a
42	JUND	chrX:29573435-29574480	GM12878	blood:	n/a	chrX:29573801-29573808 chrX:29573800-29573809 chrX:29574347-29574356 chrX:29573799-29573809 chrX:29573800-29573808
43	KAP1	chrX:29578083-29578655	HEK293	kidney:	n/a	n/a
44	MAFK	chrX:29577835-29577921	IMR90	lung:	n/a	n/a
45	MAX	chrX:29575641-29575698	GM12878	blood:	n/a	n/a
46	MEF2A	chrX:29573433-29574330	GM12878	blood:	n/a	n/a
47	MEF2A	chrX:29573383-29574344	GM12878	blood:	n/a	n/a
48	MEF2C	chrX:29573409-29574142	GM12878	blood:	n/a	n/a
49	MTA3	chrX:29573240-29574363	GM12878	blood:	n/a	n/a
50	MTA3	chrX:29573321-29574384	GM12878	blood:	n/a	n/a

miRNA name	Chromosome Location	mirBase accession
hsa-miR-4666b	chrX:29592403-29592425	MIMAT0022485

Variant related genes	Relation type
MIR4666B	TF binding region

Extended variants
information (count: 137 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:137 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4829104	chrX:29574022-29574023	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs188793116	chrX:29574096-29574097	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs59463778	chrX:29574100-29574101	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs192883945	chrX:29574240-29574241	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs7891238	chrX:29574277-29574278	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs185066040	chrX:29574348-29574349	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs187989349	chrX:29574365-29574366	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs191519598	chrX:29574387-29574388	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs369232044	chrX:29574440-29574441	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs147824129	chrX:29574474-29574475	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs141482381	chrX:29574522-29574523	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs6418613	chrX:29574651-29574652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs368978611	chrX:29574696-29574697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs11342018	chrX:29574765-29574766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs371337374	chrX:29574818-29574819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs183674813	chrX:29574855-29574856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs373296295	chrX:29574863-29574864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs188042513	chrX:29574998-29574999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs181974288	chrX:29575007-29575008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs35452226	chrX:29575045-29575046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs5927756	chrX:29575090-29575091	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs185504993	chrX:29575135-29575136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs190411539	chrX:29575479-29575480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs150118324	chrX:29575544-29575545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs138547235	chrX:29575546-29575547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538869399	chrX:29575560-29575561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs11095155	chrX:29575572-29575573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181718875	chrX:29575590-29575591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs145134130	chrX:29575650-29575651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186788436	chrX:29575750-29575751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs138956566	chrX:29575760-29575761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs58099023	chrX:29575773-29575774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373393598	chrX:29575869-29575870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190298566	chrX:29575918-29575919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112882182	chrX:29575945-29575946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200075193	chrX:29575968-29575969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113942477	chrX:29575973-29575974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs72625536	chrX:29575975-29575976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs185413283	chrX:29575976-29575977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs59334887	chrX:29575984-29575985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189774477	chrX:29576030-29576031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184209911	chrX:29576051-29576052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188762351	chrX:29576080-29576081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs144813191	chrX:29576100-29576101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs34349783	chrX:29576117-29576118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540228146	chrX:29576251-29576252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192096132	chrX:29576290-29576291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs148092247	chrX:29576342-29576343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557788529	chrX:29576354-29576355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs141820691	chrX:29576416-29576417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

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
Pancreatic cancer	17952125	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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:29573000-29574200	Enhancers	NHEK	skin
2	chrX:29573400-29574400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chrX:29573400-29574400	Enhancers	HMEC	breast
4	chrX:29573600-29574400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chrX:29573800-29574200	Active TSS	GM12878-XiMat	blood
6	chrX:29574000-29574200	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chrX:29574200-29574600	Flanking Active TSS	GM12878-XiMat	blood
8	chrX:29574600-29575200	Enhancers	GM12878-XiMat	blood
9	chrX:29575400-29577000	Weak transcription	Fetal Heart	heart
10	chrX:29577000-29577400	Active TSS	Fetal Heart	heart
11	chrX:29579000-29579200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chrX:29579200-29579400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chrX:29579400-29579800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chrX:29579800-29580800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chrX:29580800-29581000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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