Variant report

Variant	esv3345340
Chromosome Location	chrX:55105625-55119598
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:611)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chrX:55112617-55112890	HepG2	liver:	n/a	n/a
2	CTCF	chrX:55105940-55105963	LNCaP	prostate:	n/a	n/a
3	CTCF	chrX:55117370-55117505	GM10248	blood:	n/a	n/a
4	CTCF	chrX:55118960-55119040	LNCaP	prostate:	n/a	n/a
5	CTCF	chrX:55119486-55119570	LNCaP	prostate:	n/a	n/a
6	CTCF	chrX:55113643-55113744	GM10266	blood:	n/a	n/a
7	CTCF	chrX:55119274-55119368	Pancreas_OC	pancreas:	n/a	n/a
8	CTCF	chrX:55119522-55119547	Lung_OC	lung:	n/a	n/a
9	CTCF	chrX:55114903-55115024	HUVEC	blood vessel:	n/a	n/a
10	CTCF	chrX:55118571-55118595	GM10266	blood:	n/a	n/a
11	CTCF	chrX:55105509-55105667	GM13976	blood:	n/a	n/a
12	CTCF	chrX:55113400-55113438	GM10248	blood:	n/a	n/a
13	CTCF	chrX:55105528-55105633	Medullo	brain:	n/a	n/a
14	CTCF	chrX:55113043-55113085	GM10248	blood:	n/a	n/a
15	CTCF	chrX:55111181-55111280	GM10248	blood:	n/a	n/a
16	CTCF	chrX:55112024-55112123	Pancreas_OC	pancreas:	n/a	n/a
17	NRF1	chrX:55115138-55115570	SK-N-SH	brain:	n/a	chrX:55115425-55115434 chrX:55115425-55115436 chrX:55115365-55115379 chrX:55115422-55115436 chrX:55115253-55115262
18	POLR2A	chrX:55105943-55106019	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chrX:55108476-55108519	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chrX:55106780-55106926	A549	lung:	n/a	n/a
21	SPI1	chrX:55116429-55116546	K562	blood:	n/a	n/a
22	SPI1	chrX:55109209-55109377	GM12878	blood:	n/a	n/a
23	SPI1	chrX:55109156-55109373	K562	blood:	n/a	n/a
24	SPI1	chrX:55109144-55109376	GM12891	blood:	n/a	n/a
25	SPI1	chrX:55109151-55109369	K562	blood:	n/a	n/a
26	YY1	chrX:55115398-55115539	K562	blood:	n/a	chrX:55115494-55115513 chrX:55115496-55115518 chrX:55115497-55115505 chrX:55115499-55115507 chrX:55115496-55115506

(count:611 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chrX:55115535-55115585	LNCaP	prostate:	n/a
2	chrX:55115535-55115585	LNCaP	prostate:	n/a
3	chrX:55115413-55115463	HRPEpiC	eye:	n/a
4	chrX:55115306-55115356	GM12892	blood:	n/a
5	chrX:55115413-55115463	HL-60	blood:	n/a
6	chrX:55114262-55114312	HAEpiC	amniotic membrane:	n/a
7	chrX:55115370-55115420	SK-N-SH_RA	brain:	n/a
8	chrX:55115413-55115463	GM19239	blood:	n/a
9	chrX:55115370-55115420	HIPEpiC	eye:	n/a
10	chrX:55115413-55115463	HEEpiC	esophagus:	n/a
11	chrX:55115370-55115420	T-47D	breast:	n/a
12	chrX:55115445-55115495	U87	brain:	n/a
13	chrX:55115413-55115463	AG10803	skin:	n/a
14	chrX:55115535-55115585	HRE	kidney:	n/a
15	chrX:55115352-55115402	ProgFib	skin:	n/a
16	chrX:55115294-55115344	PrEC	prostate:	n/a
17	chrX:55115370-55115420	PANC-1	pancreas:	n/a
18	chrX:55115456-55115506	LNCaP	prostate:	n/a
19	chrX:55115306-55115356	H1-hESC	embryonic stem cell:	embryo
20	chrX:55116521-55116571	GM12892	blood:	n/a
21	chrX:55115352-55115402	GM19239	blood:	n/a
22	chrX:55115306-55115356	NT2-D1	testis:	n/a
23	chrX:55115294-55115344	ovcar-3	ovarian:	n/a
24	chrX:55115352-55115402	AG10803	skin:	n/a
25	chrX:55115535-55115585	MCF10A-Er-Src	breast:	n/a
26	chrX:55115456-55115506	HNPCEpiC	eye:	n/a
27	chrX:55115445-55115495	AG10803	skin:	n/a
28	chrX:55115352-55115402	RPTEC	kidney:	n/a
29	chrX:55114262-55114312	AG09319	gingival:	n/a
30	chrX:55115352-55115402	CMK	blood:	n/a
31	chrX:55115445-55115495	Jurkat	blood:	n/a
32	chrX:55115535-55115585	HCM	heart:	n/a
33	chrX:55115294-55115344	HepG2	liver:	n/a
34	chrX:55116521-55116571	HNPCEpiC	eye:	n/a
35	chrX:55114262-55114312	H1-hESC	embryonic stem cell:	embryo
36	chrX:55115535-55115585	HPAEpiC	pulmonary alveolar:	n/a
37	chrX:55114262-55114312	HMEC	breast:	n/a
38	chrX:55115294-55115344	HCPEpiC	choroid plexus:	n/a
39	chrX:55115306-55115356	NH-A	brain:	n/a
40	chrX:55114262-55114312	GM12878	blood:	n/a
41	chrX:55115294-55115344	GM12892	blood:	n/a
42	chrX:55116521-55116571	AG09309	skin:	n/a
43	chrX:55115445-55115495	GM19239	blood:	n/a
44	chrX:55115370-55115420	HNPCEpiC	eye:	n/a
45	chrX:55116521-55116571	NB4	blood:	n/a
46	chrX:55115445-55115495	HL-60	blood:	n/a
47	chrX:55115413-55115463	HCM	heart:	n/a
48	chrX:55115306-55115356	Hela-S3	cervix:	n/a
49	chrX:55115413-55115463	SK-N-SH_RA	brain:	n/a
50	chrX:55115445-55115495	Hela-S3	cervix:	n/a

No data

Variant related genes	Relation type
PAGE2	TF binding region
PAGE2	CpG island

Extended variants
information (count: 27 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183839052	chrX:55112046-55112047	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs189919456	chrX:55112645-55112646	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs73490488	chrX:55112739-55112740	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs182078449	chrX:55112746-55112747	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs144577300	chrX:55112801-55112802	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs186328764	chrX:55112845-55112846	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs190264817	chrX:55112850-55112851	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs5913790	chrX:55112890-55112891	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs185086465	chrX:55113044-55113045	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs6651979	chrX:55113412-55113413	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs2453227	chrX:55113413-55113414	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs113817005	chrX:55113417-55113418	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs2934730	chrX:55114262-55114263	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
14	rs2934731	chrX:55114303-55114304	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
15	rs2498446	chrX:55114946-55114947	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs143695669	chrX:55115144-55115145	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs148114758	chrX:55115147-55115148	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs73214621	chrX:55115331-55115332	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
19	rs59002849	chrX:55115358-55115359	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
20	rs546402724	chrX:55115370-55115371	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
21	rs181692866	chrX:55115406-55115407	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
22	rs571177960	chrX:55115523-55115524	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs7052708	chrX:55115543-55115544	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
24	rs112450792	chrX:55115604-55115605	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs2270531	chrX:55115686-55115687	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs138736434	chrX:55115689-55115690	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs184369319	chrX:55115698-55115699	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:41)

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
Autism	22495311	CNVD
Glioblastoma multiforme	22286061	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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:55115600-55115800	Bivalent Enhancer	Lung	lung

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