Variant report

Variant	esv19730
Chromosome Location	chrX:55086753-55121905
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:64)
CpG islands
(count:1342)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:64 , 50 per page) page: 1 2

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	BHLHE40	chrX:55101355-55101514	K562	blood:	n/a	n/a
3	CBX3	chrX:55101260-55101617	K562	blood:	n/a	n/a
4	CEBPB	chrX:55099850-55099965	K562	blood:	n/a	n/a
5	CTCF	chrX:55101372-55101517	K562	blood:	n/a	n/a
6	CTCF	chrX:55102988-55103015	LNCaP	prostate:	n/a	n/a
7	CTCF	chrX:55119274-55119368	Pancreas_OC	pancreas:	n/a	n/a
8	CTCF	chrX:55118960-55119040	LNCaP	prostate:	n/a	n/a
9	CTCF	chrX:55114903-55115024	HUVEC	blood vessel:	n/a	n/a
10	CTCF	chrX:55113043-55113085	GM10248	blood:	n/a	n/a
11	CTCF	chrX:55104980-55105069	Medullo	brain:	n/a	n/a
12	CTCF	chrX:55120121-55120196	GM10248	blood:	n/a	n/a
13	CTCF	chrX:55104198-55104248	Medullo	brain:	n/a	n/a
14	CTCF	chrX:55118571-55118595	GM10266	blood:	n/a	n/a
15	CTCF	chrX:55105509-55105667	GM13976	blood:	n/a	n/a
16	CTCF	chrX:55103844-55103979	Medullo	brain:	n/a	n/a
17	CTCF	chrX:55119486-55119570	LNCaP	prostate:	n/a	n/a
18	CTCF	chrX:55101373-55101429	Fibrobl	skin:	n/a	n/a
19	CTCF	chrX:55094802-55094899	Pancreas_OC	pancreas:	n/a	n/a
20	CTCF	chrX:55119522-55119547	Lung_OC	lung:	n/a	n/a
21	CTCF	chrX:55113643-55113744	GM10266	blood:	n/a	n/a
22	CTCF	chrX:55105528-55105633	Medullo	brain:	n/a	n/a
23	CTCF	chrX:55111181-55111280	GM10248	blood:	n/a	n/a
24	CTCF	chrX:55112024-55112123	Pancreas_OC	pancreas:	n/a	n/a
25	CTCF	chrX:55117370-55117505	GM10248	blood:	n/a	n/a
26	CTCF	chrX:55090228-55090292	GM10266	blood:	n/a	n/a
27	CTCF	chrX:55105940-55105963	LNCaP	prostate:	n/a	n/a
28	CTCF	chrX:55096597-55096656	Pancreas_OC	pancreas:	n/a	n/a
29	CTCF	chrX:55113400-55113438	GM10248	blood:	n/a	n/a
30	E2F6	chrX:55101321-55101552	K562	blood:	n/a	n/a
31	MAFF	chrX:55086806-55086851	K562	blood:	n/a	n/a
32	MAFK	chrX:55086666-55086953	HepG2	liver:	n/a	n/a
33	MAFK	chrX:55086670-55086982	IMR90	lung:	n/a	n/a
34	MAX	chrX:55101297-55101558	K562	blood:	n/a	n/a
35	MAX	chrX:55101171-55101613	K562	blood:	n/a	chrX:55101248-55101258
36	MAX	chrX:55101352-55101514	K562	blood:	n/a	n/a
37	MYC	chrX:55101411-55101476	H1-hESC	embryonic stem cell:	n/a	n/a
38	MYC	chrX:55099706-55099720	MCF-7	breast:	n/a	n/a
39	MYC	chrX:55088839-55088971	MCF10A-Er-Src	breast:	n/a	n/a
40	MYC	chrX:55099721-55099770	MCF-7	breast:	n/a	n/a
41	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
42	NRF1	chrX:55101314-55101514	K562	blood:	n/a	chrX:55101439-55101450
43	POLR2A	chrX:55090427-55090433	MCF10A-Er-Src	breast:	n/a	n/a
44	POLR2A	chrX:55119993-55120149	ProgFib	skin:	n/a	n/a
45	POLR2A	chrX:55108476-55108519	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chrX:55101342-55101637	A549	lung:	n/a	n/a
47	POLR2A	chrX:55105943-55106019	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chrX:55106780-55106926	A549	lung:	n/a	n/a
49	POLR2A	chrX:55099662-55099739	A549	lung:	n/a	n/a
50	POLR2A	chrX:55092144-55092308	ProgFib	skin:	n/a	n/a

(count:1342 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chrX:55102690-55102740	HPAEpiC	pulmonary alveolar:	n/a
2	chrX:55101346-55101396	BJ	skin:	n/a
3	chrX:55115456-55115506	K562	blood:	n/a
4	chrX:55101509-55101559	HRCEpiC	kidney:	n/a
5	chrX:55101410-55101460	AG04450	lung:	fetal
6	chrX:55116521-55116571	PFSK-1	brain:	n/a
7	chrX:55101639-55101689	HEK293	kidney:	embryo
8	chrX:55115370-55115420	BE2_C	brain:	n/a
9	chrX:55115456-55115506	HEEpiC	esophagus:	n/a
10	chrX:55114262-55114312	K562	blood:	n/a
11	chrX:55100096-55100146	HEEpiC	esophagus:	n/a
12	chrX:55101509-55101559	GM19239	blood:	n/a
13	chrX:55116521-55116571	AG04450	lung:	fetal
14	chrX:55101351-55101401	HL-60	blood:	n/a
15	chrX:55101639-55101689	HPAEpiC	pulmonary alveolar:	n/a
16	chrX:55101639-55101689	Caco-2	colon:	n/a
17	chrX:55101639-55101689	HRPEpiC	eye:	n/a
18	chrX:55101410-55101460	SK-N-MC	brain:	n/a
19	chrX:55101289-55101339	HNPCEpiC	eye:	n/a
20	chrX:55101327-55101377	MCF-7	breast:	n/a
21	chrX:55100096-55100146	HRE	kidney:	n/a
22	chrX:55115352-55115402	GM06990	blood:	n/a
23	chrX:55101509-55101559	A549	lung:	n/a
24	chrX:55115445-55115495	H1-hESC	embryonic stem cell:	embryo
25	chrX:55101301-55101351	U87	brain:	n/a
26	chrX:55101346-55101396	ovcar-3	ovarian:	n/a
27	chrX:55115306-55115356	Jurkat	blood:	n/a
28	chrX:55115306-55115356	NH-A	brain:	n/a
29	chrX:55102690-55102740	SKMC	muscle:	n/a
30	chrX:55115413-55115463	HL-60	blood:	n/a
31	chrX:55116521-55116571	AG10803	skin:	n/a
32	chrX:55115294-55115344	Caco-2	colon:	n/a
33	chrX:55101460-55101510	GM06990	blood:	n/a
34	chrX:55115535-55115585	HRE	kidney:	n/a
35	chrX:55101639-55101689	HAEpiC	amniotic membrane:	n/a
36	chrX:55114262-55114312	LNCaP	prostate:	n/a
37	chrX:55115535-55115585	NT2-D1	testis:	n/a
38	chrX:55115535-55115585	HMEC	breast:	n/a
39	chrX:55115306-55115356	HepG2	liver:	n/a
40	chrX:55115535-55115585	HPAEpiC	pulmonary alveolar:	n/a
41	chrX:55101327-55101377	PrEC	prostate:	n/a
42	chrX:55101346-55101396	HAEpiC	amniotic membrane:	n/a
43	chrX:55115352-55115402	HEEpiC	esophagus:	n/a
44	chrX:55101301-55101351	GM19239	blood:	n/a
45	chrX:55101351-55101401	HPAEpiC	pulmonary alveolar:	n/a
46	chrX:55101289-55101339	HEEpiC	esophagus:	n/a
47	chrX:55115535-55115585	A549	lung:	n/a
48	chrX:55101639-55101689	HRCEpiC	kidney:	n/a
49	chrX:55114262-55114312	ovcar-3	ovarian:	n/a
50	chrX:55101346-55101396	MCF10A-Er-Src	breast:	n/a

No data

Variant related genes	Relation type
PAGE2B	TF binding region
PAGE2	TF binding region
ENSG00000234466	TF binding region
PAGE2B	CpG island
PAGE2	CpG island
ENSG00000234466	CpG island

Extended variants
information (count: 54 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141018637	chrX:55086757-55086758	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs150247324	chrX:55086802-55086803	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs534613839	chrX:55086893-55086894	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs138912367	chrX:55086967-55086968	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs60003119	chrX:55096627-55096628	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs183686346	chrX:55099694-55099695	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs576093428	chrX:55099743-55099744	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs12392180	chrX:55099770-55099771	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs186856826	chrX:55099862-55099863	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs79544653	chrX:55099928-55099929	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs569158649	chrX:55099934-55099935	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs188356046	chrX:55101177-55101178	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs181261344	chrX:55101203-55101204	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs73490464	chrX:55101254-55101255	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs184932302	chrX:55101302-55101303	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
16	rs190960080	chrX:55101327-55101328	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
17	rs73490466	chrX:55101399-55101400	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
18	rs180983227	chrX:55101420-55101421	Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
19	rs187373767	chrX:55101509-55101510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs192095553	chrX:55101538-55101539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs142415976	chrX:55101623-55101624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs368612647	chrX:55101624-55101625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs182881652	chrX:55101671-55101672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs187596826	chrX:55101702-55101703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs150840347	chrX:55101716-55101717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs113930027	chrX:55101760-55101761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs73490469	chrX:55101796-55101797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs183839052	chrX:55112046-55112047	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs189919456	chrX:55112645-55112646	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs73490488	chrX:55112739-55112740	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs182078449	chrX:55112746-55112747	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs144577300	chrX:55112801-55112802	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs186328764	chrX:55112845-55112846	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs190264817	chrX:55112850-55112851	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs5913790	chrX:55112890-55112891	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs185086465	chrX:55113044-55113045	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs6651979	chrX:55113412-55113413	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs2453227	chrX:55113413-55113414	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs113817005	chrX:55113417-55113418	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs2934730	chrX:55114262-55114263	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
41	rs2934731	chrX:55114303-55114304	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
42	rs2498446	chrX:55114946-55114947	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs143695669	chrX:55115144-55115145	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs148114758	chrX:55115147-55115148	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs73214621	chrX:55115331-55115332	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
46	rs59002849	chrX:55115358-55115359	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
47	rs546402724	chrX:55115370-55115371	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
48	rs181692866	chrX:55115406-55115407	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
49	rs571177960	chrX:55115523-55115524	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs7052708	chrX:55115543-55115544	Inactive region	TF binding region CpG island	1 gene(s)	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:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:55101400-55101800	Enhancers	K562	blood
2	chrX:55115600-55115800	Bivalent Enhancer	Lung	lung

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