Variant report

Variant	esv3370157
Chromosome Location	chrX:78921830-79315481
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:593)
CpG islands
(count:732)
Chromatin interactive
region (count:9)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:593 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

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	BACH1	chrX:79147511-79147702	H1-hESC	embryonic stem cell:	n/a	n/a
3	BRCA1	chrX:79039053-79039097	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chrX:79053400-79053674	K562	blood:	n/a	n/a
5	CEBPB	chrX:79053401-79053570	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chrX:78954411-78954618	IMR90	lung:	n/a	n/a
7	CEBPB	chrX:79166858-79167144	A549	lung:	n/a	chrX:79166983-79166994
8	CEBPB	chrX:79020611-79020784	IMR90	lung:	n/a	n/a
9	CEBPB	chrX:79053438-79053631	A549	lung:	n/a	n/a
10	CEBPB	chrX:79053317-79053696	IMR90	lung:	n/a	n/a
11	CEBPB	chrX:79166823-79167178	IMR90	lung:	n/a	chrX:79166983-79166994
12	CEBPB	chrX:79166831-79167137	HepG2	liver:	n/a	chrX:79166983-79166994
13	CEBPB	chrX:79166861-79167123	K562	blood:	n/a	chrX:79166983-79166994
14	CEBPB	chrX:79053414-79053622	MCF-7	breast:	n/a	n/a
15	CHD2	chrX:79277981-79278367	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chrX:79286009-79286045	HepG2	liver:	n/a	n/a
17	CTCF	chrX:78961131-78961211	LNCaP	prostate:	n/a	n/a
18	CTCF	chrX:79030880-79030962	GM10248	blood:	n/a	n/a
19	CTCF	chrX:79208103-79208214	LNCaP	prostate:	n/a	n/a
20	CTCF	chrX:79105740-79105890	HEK293	kidney:	n/a	n/a
21	CTCF	chrX:79308953-79309058	GM10248	blood:	n/a	n/a
22	CTCF	chrX:79100255-79100321	LNCaP	prostate:	n/a	n/a
23	CTCF	chrX:79310216-79310330	GM20000	blood:	n/a	n/a
24	CTCF	chrX:79285992-79286048	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chrX:78966054-78966128	LNCaP	prostate:	n/a	n/a
26	CTCF	chrX:78991658-78991766	GM10266	blood:	n/a	n/a
27	CTCF	chrX:79105740-79105890	BE2_C	brain:	n/a	n/a
28	CTCF	chrX:79105740-79105890	NB4	blood:	n/a	n/a
29	CTCF	chrX:79105720-79105870	SK-N-SH_RA	brain:	n/a	n/a
30	CTCF	chrX:78955836-78955905	Medullo	brain:	n/a	n/a
31	CTCF	chrX:79223540-79223690	HEK293	kidney:	n/a	n/a
32	CTCF	chrX:79189279-79189316	GM10248	blood:	n/a	n/a
33	CTCF	chrX:79105720-79105870	GM12867	blood:	n/a	n/a
34	CTCF	chrX:79285940-79286090	GM12868	blood:	n/a	n/a
35	CTCF	chrX:79105700-79105850	GM12864	blood:	n/a	n/a
36	CTCF	chrX:79192205-79192275	Lung_OC	lung:	n/a	n/a
37	CTCF	chrX:79033055-79033104	GM10266	blood:	n/a	n/a
38	CTCF	chrX:79195526-79195607	GM20000	blood:	n/a	n/a
39	CTCF	chrX:79286001-79286050	Hela-S3	cervix:	n/a	n/a
40	CTCF	chrX:79087566-79087615	Pancreas_OC	pancreas:	n/a	n/a
41	CTCF	chrX:79081302-79081332	ProgFib	skin:	n/a	n/a
42	CTCF	chrX:79237153-79237201	LNCaP	prostate:	n/a	n/a
43	CTCF	chrX:79204666-79204776	GM20000	blood:	n/a	n/a
44	CTCF	chrX:79285900-79286050	GM12872	blood:	n/a	n/a
45	CTCF	chrX:79128861-79128953	GM10266	blood:	n/a	n/a
46	CTCF	chrX:79105691-79105868	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chrX:79285880-79286030	BE2_C	brain:	n/a	n/a
48	CTCF	chrX:79064222-79064299	LNCaP	prostate:	n/a	n/a
49	CTCF	chrX:79019815-79019939	GM10248	blood:	n/a	n/a
50	CTCF	chrX:79077391-79077417	GM10248	blood:	n/a	n/a

(count:732 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chrX:79270225-79270275	RPTEC	kidney:	n/a
2	chrX:79269151-79269201	T-47D	breast:	n/a
3	chrX:79269739-79269789	HIPEpiC	eye:	n/a
4	chrX:79277299-79277349	Caco-2	colon:	n/a
5	chrX:79278012-79278062	HMEC	breast:	n/a
6	chrX:79277933-79277983	BE2_C	brain:	n/a
7	chrX:79269151-79269201	HCPEpiC	choroid plexus:	n/a
8	chrX:79277299-79277349	BJ	skin:	n/a
9	chrX:79270225-79270275	SK-N-SH_RA	brain:	n/a
10	chrX:79270180-79270230	AG09319	gingival:	n/a
11	chrX:79277933-79277983	HL-60	blood:	n/a
12	chrX:79279581-79279631	ECC-1	luminal epithelium:	n/a
13	chrX:79270225-79270275	A549	lung:	n/a
14	chrX:79269739-79269789	HL-60	blood:	n/a
15	chrX:79277322-79277372	U87	brain:	n/a
16	chrX:79269739-79269789	GM12892	blood:	n/a
17	chrX:79269151-79269201	Caco-2	colon:	n/a
18	chrX:79270225-79270275	PFSK-1	brain:	n/a
19	chrX:79269151-79269201	AG09309	skin:	n/a
20	chrX:79279581-79279631	GM12891	blood:	n/a
21	chrX:79277067-79277117	AG09319	gingival:	n/a
22	chrX:79270225-79270275	HAEpiC	amniotic membrane:	n/a
23	chrX:79277322-79277372	PFSK-1	brain:	n/a
24	chrX:79280150-79280200	GM12878	blood:	n/a
25	chrX:79270180-79270230	MCF-7	breast:	n/a
26	chrX:79279642-79279692	GM12891	blood:	n/a
27	chrX:79269151-79269201	K562	blood:	n/a
28	chrX:79270180-79270230	ProgFib	skin:	n/a
29	chrX:79277299-79277349	SK-N-SH	brain:	n/a
30	chrX:79270180-79270230	A549	lung:	n/a
31	chrX:79269739-79269789	SK-N-SH_RA	brain:	n/a
32	chrX:79277299-79277349	SKMC	muscle:	n/a
33	chrX:79279642-79279692	HEEpiC	esophagus:	n/a
34	chrX:79279581-79279631	HCT-116	colon:	n/a
35	chrX:79277299-79277349	AG09309	skin:	n/a
36	chrX:79279642-79279692	SK-N-SH_RA	brain:	n/a
37	chrX:79269739-79269789	K562	blood:	n/a
38	chrX:79278012-79278062	PrEC	prostate:	n/a
39	chrX:79277299-79277349	HMEC	breast:	n/a
40	chrX:79269739-79269789	HRCEpiC	kidney:	n/a
41	chrX:79280150-79280200	HMEC	breast:	n/a
42	chrX:79277322-79277372	HAEpiC	amniotic membrane:	n/a
43	chrX:79277322-79277372	NB4	blood:	n/a
44	chrX:79279581-79279631	HRCEpiC	kidney:	n/a
45	chrX:79270225-79270275	NB4	blood:	n/a
46	chrX:79270225-79270275	MCF-7	breast:	n/a
47	chrX:79269739-79269789	SK-N-MC	brain:	n/a
48	chrX:79277067-79277117	SK-N-SH	brain:	n/a
49	chrX:79279642-79279692	CMK	blood:	n/a
50	chrX:79269151-79269201	CMK	blood:	n/a

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:119319099..119319741-chrX:79019251..79019874,2	MCF-7	breast:
2	chrX:79105661..79108257-chrX:79112036..79113785,2	MCF-7	breast:
3	chrX:79111031..79113848-chrX:79129901..79131563,2	K562	blood:
4	chrX:79132290..79134398-chrX:79136094..79138656,2	MCF-7	breast:
5	chrX:79111031..79113848-chrX:79129901..79131563,2	K562	blood:
6	chrX:78733188..78733978-chrX:79285640..79286468,2	MCF-7	breast:
7	chrX:79132290..79134398-chrX:79136094..79138656,2	MCF-7	breast:
8	chr2:68478772..68479685-chrX:79123890..79124390,2	Hela-S3	cervix:
9	chrX:79105661..79108257-chrX:79112036..79113785,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM46D-5	chrX:79270268-79270386	NONHSAT137717
2	lnc-FAM46D-5	chrX:79277767-79278153	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
ENSG00000221823	chromatin interactions

Extended variants
information (count: 562 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:562 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4489432	chrX:78955504-78955505	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs1496189	chrX:78955521-78955522	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs113952734	chrX:78955522-78955523	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs1496190	chrX:78955574-78955575	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs183363676	chrX:78975017-78975018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs149124776	chrX:78975195-78975196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187547305	chrX:78975453-78975454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs35795562	chrX:78975487-78975488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192532680	chrX:78975574-78975575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182089693	chrX:78975584-78975585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186724783	chrX:78975600-78975601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192629840	chrX:78975765-78975766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185011964	chrX:78975772-78975773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7878423	chrX:78975788-78975789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570671027	chrX:78975813-78975814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs368073183	chrX:78975816-78975817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371924634	chrX:78975848-78975849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs193204168	chrX:78975920-78975921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185194498	chrX:78975923-78975924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12839556	chrX:78975969-78975970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189314879	chrX:78975970-78975971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181975220	chrX:78975982-78975983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs143937926	chrX:78976009-78976010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs146963837	chrX:78976132-78976133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs5959445	chrX:78976167-78976168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs5959446	chrX:78976246-78976247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185207575	chrX:78976330-78976331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188399047	chrX:78976362-78976363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs142050705	chrX:78976411-78976412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs181225605	chrX:78976559-78976560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs368616588	chrX:78976767-78976768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs150468067	chrX:78976884-78976885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs5913047	chrX:78976931-78976932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs79256137	chrX:78977014-78977015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs186728608	chrX:78977055-78977056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs199527968	chrX:78977189-78977190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs113926898	chrX:78977192-78977193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs76987895	chrX:78977193-78977194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs398102033	chrX:78977195-78977196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs368563828	chrX:78981817-78981818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs5959447	chrX:78981846-78981847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs141826743	chrX:78981873-78981874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs150188178	chrX:78981919-78981920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs182216754	chrX:78981986-78981987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs186003635	chrX:78981997-78981998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs369943249	chrX:78982000-78982001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs138843185	chrX:78982104-78982105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs5913059	chrX:78982135-78982136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs147405087	chrX:78982152-78982153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs571300150	chrX:78982314-78982315	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

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	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD

Chromatin state (count:141 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:78955400-78955600	Bivalent Enhancer	Fetal Kidney	kidney
2	chrX:78975000-78975200	Enhancers	Liver	Liver
3	chrX:78975400-78976400	Weak transcription	Liver	Liver
4	chrX:78976400-78977200	Enhancers	Liver	Liver
5	chrX:78981800-78983600	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chrX:78982200-78983000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chrX:78982800-78983600	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chrX:78983000-78983600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chrX:78983000-78983800	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chrX:78983200-78983400	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chrX:78983200-78985200	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chrX:78983400-78983600	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chrX:78983400-78983600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chrX:78983600-78983800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chrX:78983600-78983800	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chrX:78983600-78983800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chrX:78983600-78984000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
18	chrX:78983800-78984000	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chrX:78983800-78984000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chrX:78983800-78984200	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chrX:78983800-78986800	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chrX:78984000-78984600	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chrX:78984000-78984800	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chrX:78984000-78985800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chrX:78984200-78984600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chrX:78984600-78984800	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chrX:78985800-78987200	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chrX:78986800-78987200	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chrX:79012000-79014800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chrX:79012600-79013400	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chrX:79018000-79018400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chrX:79026600-79027400	Active TSS	ES-I3 Cell Line	embryonic stem cell
33	chrX:79182000-79182400	Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chrX:79182000-79182800	Active TSS	ES-I3 Cell Line	embryonic stem cell
35	chrX:79182000-79182800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
36	chrX:79182000-79182800	Active TSS	HUES6 Cell Line	embryonic stem cell
37	chrX:79182200-79182800	Active TSS	HUES64 Cell Line	embryonic stem cell
38	chrX:79182400-79182800	Active TSS	H9 Cell Line	embryonic stem cell
39	chrX:79212200-79212800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
40	chrX:79212400-79212600	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
41	chrX:79212600-79212800	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
42	chrX:79238600-79239000	ZNF genes & repeats	Fetal Kidney	kidney
43	chrX:79265400-79265600	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chrX:79265600-79265800	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chrX:79266800-79268400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
46	chrX:79267000-79268800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
47	chrX:79268200-79268800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
48	chrX:79268400-79268600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
49	chrX:79268400-79268600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chrX:79268600-79268800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell

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