Variant report

Variant	esv3412365
Chromosome Location	chrX:79161145-79406542
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:349)
CpG islands
(count:733)
Chromatin interactive
region (count:1)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:349 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chrX:79238628-79238995	K562	blood:	n/a	n/a
2	CEBPB	chrX:79369897-79370077	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chrX:79166831-79167137	HepG2	liver:	n/a	chrX:79166983-79166994
4	CEBPB	chrX:79353555-79353932	IMR90	lung:	n/a	chrX:79353739-79353750
5	CEBPB	chrX:79166823-79167178	IMR90	lung:	n/a	chrX:79166983-79166994
6	CEBPB	chrX:79166861-79167123	K562	blood:	n/a	chrX:79166983-79166994
7	CEBPB	chrX:79353577-79353898	K562	blood:	n/a	chrX:79353739-79353750
8	CEBPB	chrX:79353579-79353925	HepG2	liver:	n/a	chrX:79353739-79353750
9	CEBPB	chrX:79166858-79167144	A549	lung:	n/a	chrX:79166983-79166994
10	CEBPB	chrX:79375966-79376180	IMR90	lung:	n/a	chrX:79376077-79376086 chrX:79376077-79376088 chrX:79376075-79376086
11	CEBPB	chrX:79353587-79353890	H1-hESC	embryonic stem cell:	n/a	chrX:79353739-79353750
12	CEBPB	chrX:79376002-79376202	HepG2	liver:	n/a	chrX:79376077-79376086 chrX:79376077-79376088 chrX:79376075-79376086
13	CEBPB	chrX:79353558-79353904	A549	lung:	n/a	chrX:79353739-79353750
14	CEBPB	chrX:79335400-79335622	IMR90	lung:	n/a	n/a
15	CEBPB	chrX:79369893-79370190	IMR90	lung:	n/a	n/a
16	CHD2	chrX:79277981-79278367	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chrX:79369791-79369874	LNCaP	prostate:	n/a	n/a
18	CTCF	chrX:79286009-79286045	HepG2	liver:	n/a	n/a
19	CTCF	chrX:79204666-79204776	GM20000	blood:	n/a	n/a
20	CTCF	chrX:79386185-79386236	LNCaP	prostate:	n/a	n/a
21	CTCF	chrX:79388209-79388307	A549	lung:	n/a	n/a
22	CTCF	chrX:79208103-79208214	LNCaP	prostate:	n/a	n/a
23	CTCF	chrX:79285943-79286098	MCF-7	breast:	n/a	n/a
24	CTCF	chrX:79285900-79286050	GM12875	blood:	n/a	n/a
25	CTCF	chrX:79178419-79178434	Medullo	brain:	n/a	n/a
26	CTCF	chrX:79188764-79188824	GM20000	blood:	n/a	n/a
27	CTCF	chrX:79306704-79306717	Medullo	brain:	n/a	n/a
28	CTCF	chrX:79310472-79310558	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chrX:79285900-79286050	GM12872	blood:	n/a	n/a
30	CTCF	chrX:79285980-79286130	GM12873	blood:	n/a	n/a
31	CTCF	chrX:79345617-79345734	GM20000	blood:	n/a	n/a
32	CTCF	chrX:79238715-79238826	ProgFib	skin:	n/a	n/a
33	CTCF	chrX:79310216-79310330	GM20000	blood:	n/a	n/a
34	CTCF	chrX:79195526-79195607	GM20000	blood:	n/a	n/a
35	CTCF	chrX:79285920-79286070	GM06990	blood:	n/a	n/a
36	CTCF	chrX:79238736-79238820	MCF-7	breast:	n/a	n/a
37	CTCF	chrX:79215145-79215210	GM20000	blood:	n/a	n/a
38	CTCF	chrX:79199931-79199935	ProgFib	skin:	n/a	n/a
39	CTCF	chrX:79298218-79298273	GM10248	blood:	n/a	n/a
40	CTCF	chrX:79220334-79220389	GM20000	blood:	n/a	n/a
41	CTCF	chrX:79285960-79286110	NB4	blood:	n/a	n/a
42	CTCF	chrX:79192205-79192275	Lung_OC	lung:	n/a	n/a
43	CTCF	chrX:79285980-79286130	HEK293	kidney:	n/a	n/a
44	CTCF	chrX:79338579-79338633	Pancreas_OC	pancreas:	n/a	n/a
45	CTCF	chrX:79285935-79286114	MCF-7	breast:	n/a	n/a
46	CTCF	chrX:79285900-79286050	GM12878	blood:	n/a	n/a
47	CTCF	chrX:79351743-79351864	GM10248	blood:	n/a	n/a
48	CTCF	chrX:79190535-79190620	GM20000	blood:	n/a	n/a
49	CTCF	chrX:79238703-79238829	MCF-7	breast:	n/a	n/a
50	CTCF	chrX:79285865-79286183	GM12878	blood:	n/a	n/a

(count:733 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chrX:79269739-79269789	HRE	kidney:	n/a
2	chrX:79269739-79269789	HRE	kidney:	n/a
3	chrX:79277933-79277983	PrEC	prostate:	n/a
4	chrX:79279581-79279631	PrEC	prostate:	n/a
5	chrX:79277322-79277372	K562	blood:	n/a
6	chrX:79277933-79277983	HRPEpiC	eye:	n/a
7	chrX:79269151-79269201	HIPEpiC	eye:	n/a
8	chrX:79277299-79277349	SK-N-SH_RA	brain:	n/a
9	chrX:79278012-79278062	PrEC	prostate:	n/a
10	chrX:79270180-79270230	SK-N-SH_RA	brain:	n/a
11	chrX:79279642-79279692	SKMC	muscle:	n/a
12	chrX:79270225-79270275	AG09309	skin:	n/a
13	chrX:79278012-79278062	Hela-S3	cervix:	n/a
14	chrX:79278012-79278062	HPAEpiC	pulmonary alveolar:	n/a
15	chrX:79270180-79270230	HEK293	kidney:	embryo
16	chrX:79277299-79277349	GM19239	blood:	n/a
17	chrX:79277067-79277117	HepG2	liver:	n/a
18	chrX:79269739-79269789	GM19239	blood:	n/a
19	chrX:79279581-79279631	HCF	heart:	n/a
20	chrX:79270180-79270230	HMEC	breast:	n/a
21	chrX:79277933-79277983	GM12892	blood:	n/a
22	chrX:79279642-79279692	ProgFib	skin:	n/a
23	chrX:79280150-79280200	GM12892	blood:	n/a
24	chrX:79270225-79270275	RPTEC	kidney:	n/a
25	chrX:79269151-79269201	LNCaP	prostate:	n/a
26	chrX:79270225-79270275	NB4	blood:	n/a
27	chrX:79270180-79270230	AG09309	skin:	n/a
28	chrX:79270225-79270275	HMEC	breast:	n/a
29	chrX:79277322-79277372	MCF-7	breast:	n/a
30	chrX:79277299-79277349	GM12878	blood:	n/a
31	chrX:79279642-79279692	Jurkat	blood:	n/a
32	chrX:79279581-79279631	AoSMC	blood vessel:	n/a
33	chrX:79279581-79279631	GM12892	blood:	n/a
34	chrX:79277067-79277117	Hepatocyte	liver:	n/a
35	chrX:79277933-79277983	NHDF-neo	bronchial:	n/a
36	chrX:79277299-79277349	CMK	blood:	n/a
37	chrX:79269739-79269789	ovcar-3	ovarian:	n/a
38	chrX:79277322-79277372	SK-N-MC	brain:	n/a
39	chrX:79280150-79280200	HCPEpiC	choroid plexus:	n/a
40	chrX:79270225-79270275	HEK293	kidney:	embryo
41	chrX:79279642-79279692	HCF	heart:	n/a
42	chrX:79270180-79270230	Hepatocyte	liver:	n/a
43	chrX:79279581-79279631	GM12891	blood:	n/a
44	chrX:79269739-79269789	HMEC	breast:	n/a
45	chrX:79270180-79270230	NB4	blood:	n/a
46	chrX:79277322-79277372	HCM	heart:	n/a
47	chrX:79277933-79277983	NT2-D1	testis:	n/a
48	chrX:79278012-79278062	HMEC	breast:	n/a
49	chrX:79279642-79279692	ECC-1	luminal epithelium:	n/a
50	chrX:79277322-79277372	Hela-S3	cervix:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chrX:78733188..78733978-chrX:79285640..79286468,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM46D-5	chrX:79277767-79278153	NONHSAT137717
2	lnc-FAM46D-5	chrX:79270268-79270386	NONHSAT137717

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	TBX22	hsa-miR-124-3p	chrX:79286741-79286758
2	TBX22	hsa-miR-124-3p	chrX:79286751-79286758

Variant related genes	Relation type
TBX22	TF binding region
TBX22	CpG island

Extended variants
information (count: 480 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:480 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571241026	chrX:79182047-79182048	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs187181552	chrX:79182092-79182093	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs137877892	chrX:79182117-79182118	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs191365755	chrX:79182164-79182165	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs183229909	chrX:79182197-79182198	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs375266638	chrX:79182224-79182225	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs143529673	chrX:79182317-79182318	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs62598468	chrX:79182323-79182324	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs188506259	chrX:79182359-79182360	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs139379591	chrX:79182381-79182382	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs193060240	chrX:79182432-79182433	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs201096481	chrX:79182434-79182435	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs184787027	chrX:79182450-79182451	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs187622602	chrX:79182457-79182458	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs191324555	chrX:79182463-79182464	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs183471755	chrX:79182468-79182469	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs195349	chrX:79182472-79182473	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs377514556	chrX:79182493-79182494	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs189447287	chrX:79182525-79182526	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs377014057	chrX:79182528-79182529	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs144405598	chrX:79182580-79182581	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs181436900	chrX:79182589-79182590	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs195348	chrX:79182616-79182617	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs195347	chrX:79182624-79182625	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs184823873	chrX:79182666-79182667	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs7060663	chrX:79182690-79182691	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs113292826	chrX:79182691-79182692	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs195346	chrX:79182760-79182761	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs375991086	chrX:79182779-79182780	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs377366675	chrX:79212209-79212210	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs182917957	chrX:79212228-79212229	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs188767184	chrX:79212255-79212256	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs192845017	chrX:79212270-79212271	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs184114384	chrX:79212271-79212272	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs559448945	chrX:79212301-79212302	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs12557630	chrX:79212362-79212363	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs12557632	chrX:79212368-79212369	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs565017137	chrX:79212369-79212370	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs187569071	chrX:79212372-79212373	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs149060436	chrX:79212385-79212386	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs530860653	chrX:79212399-79212400	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs12558031	chrX:79212414-79212415	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs12559673	chrX:79212438-79212439	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs12559531	chrX:79212506-79212507	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs191295901	chrX:79212631-79212632	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
46	rs202129189	chrX:79212652-79212653	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
47	rs79969365	chrX:79212662-79212663	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
48	rs76229367	chrX:79212671-79212672	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
49	rs370663601	chrX:79212674-79212675	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
50	rs374756975	chrX:79212677-79212678	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:48)

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
Acute myeloid leukemia	20729466	CNVD
Autism	22495311	CNVD
Cancer	20581869	CNVD
Multiple myeloma	20724749	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Follicular lymphoma	20505157	CNVD
primary effusion lymphomas	17116491	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
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	22429812	CNVD
Cancer	16751803	CNVD
Premature ovarian failure	20952765	CNVD
Astrocytoma	22246337	CNVD
Mental retardation	17339581	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21611746	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:130 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:79182000-79182400	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chrX:79182000-79182800	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chrX:79182000-79182800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chrX:79182000-79182800	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chrX:79182200-79182800	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chrX:79182400-79182800	Active TSS	H9 Cell Line	embryonic stem cell
7	chrX:79212200-79212800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
8	chrX:79212400-79212600	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
9	chrX:79212600-79212800	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
10	chrX:79238600-79239000	ZNF genes & repeats	Fetal Kidney	kidney
11	chrX:79265400-79265600	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chrX:79265600-79265800	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chrX:79266800-79268400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
14	chrX:79267000-79268800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
15	chrX:79268200-79268800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
16	chrX:79268400-79268600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
17	chrX:79268400-79268600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chrX:79268600-79268800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
19	chrX:79268600-79268800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
20	chrX:79268600-79269600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chrX:79268800-79269600	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chrX:79269200-79270400	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chrX:79269400-79270000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
24	chrX:79269600-79270800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chrX:79269600-79271800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
26	chrX:79269800-79270400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
27	chrX:79270000-79270200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
28	chrX:79270000-79270600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
29	chrX:79270000-79270800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chrX:79270200-79270400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
31	chrX:79270200-79270600	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chrX:79270400-79270600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
33	chrX:79270600-79270800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
34	chrX:79270800-79271000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
35	chrX:79270800-79276800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chrX:79270800-79277200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chrX:79276600-79277000	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chrX:79276800-79277000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
39	chrX:79276800-79277000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
40	chrX:79276800-79277200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
41	chrX:79276800-79277600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chrX:79276800-79277600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chrX:79277000-79277200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chrX:79277000-79277200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
45	chrX:79277000-79277600	Active TSS	iPS-20b Cell Line	embryonic stem cell
46	chrX:79277000-79278400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
47	chrX:79277000-79278800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
48	chrX:79277000-79278800	Bivalent/Poised TSS	Fetal Kidney	kidney
49	chrX:79277200-79277400	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
50	chrX:79277200-79277600	Bivalent Enhancer	Fetal Muscle Leg	muscle

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