Variant report

Variant	esv2758870
Chromosome Location	chrX:63509553-64136689
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1508)
CpG islands
(count:857)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1508 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chrX:63615226-63615541	GM12878	blood:	n/a	n/a
2	ATF2	chrX:63615250-63615546	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chrX:63614711-63614850	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chrX:63657724-63657802	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chrX:63562779-63563099	K562	blood:	n/a	n/a
6	BACH1	chrX:63615293-63615585	H1-hESC	embryonic stem cell:	n/a	n/a
7	BATF	chrX:63647767-63647972	GM12878	blood:	n/a	chrX:63647882-63647893
8	BATF	chrX:63647696-63648038	GM12878	blood:	n/a	chrX:63647882-63647893
9	BCL11A	chrX:63657294-63657534	GM12878	blood:	n/a	n/a
10	BHLHE40	chrX:63657249-63657444	GM12878	blood:	n/a	n/a
11	BHLHE40	chrX:64114614-64114839	HepG2	liver:	n/a	n/a
12	BHLHE40	chrX:63613965-63614592	K562	blood:	n/a	n/a
13	BHLHE40	chrX:63643875-63643970	K562	blood:	n/a	n/a
14	BHLHE40	chrX:63615203-63615548	GM12878	blood:	n/a	n/a
15	BHLHE40	chrX:63614890-63615586	K562	blood:	n/a	chrX:63614965-63614981
16	BRCA1	chrX:63615181-63615602	GM12878	blood:	n/a	n/a
17	BRCA1	chrX:63615202-63615638	H1-hESC	embryonic stem cell:	n/a	n/a
18	BRCA1	chrX:63615311-63615551	HepG2	liver:	n/a	n/a
19	CBX3	chrX:63615153-63615555	K562	blood:	n/a	n/a
20	CBX3	chrX:63512869-63513131	K562	blood:	n/a	n/a
21	CBX3	chrX:63613768-63614456	K562	blood:	n/a	n/a
22	CCNT2	chrX:63615036-63615429	K562	blood:	n/a	n/a
23	CEBPB	chrX:64028956-64029156	A549	lung:	n/a	n/a
24	CEBPB	chrX:63753662-63753789	K562	blood:	n/a	n/a
25	CEBPB	chrX:63845817-63845974	K562	blood:	n/a	n/a
26	CEBPB	chrX:64003628-64003766	K562	blood:	n/a	chrX:64003695-64003706
27	CEBPB	chrX:63979216-63979324	A549	lung:	n/a	n/a
28	CEBPB	chrX:63573784-63574031	A549	lung:	n/a	n/a
29	CEBPB	chrX:63573843-63574133	K562	blood:	n/a	n/a
30	CEBPB	chrX:64038750-64038791	A549	lung:	n/a	n/a
31	CEBPB	chrX:64079899-64080096	IMR90	lung:	n/a	n/a
32	CEBPB	chrX:63781101-63781186	K562	blood:	n/a	chrX:63781119-63781130
33	CEBPB	chrX:64029056-64029115	IMR90	lung:	n/a	n/a
34	CEBPB	chrX:63845770-63846077	IMR90	lung:	n/a	n/a
35	CEBPB	chrX:64003535-64003839	A549	lung:	n/a	chrX:64003695-64003706
36	CEBPB	chrX:64050787-64050899	IMR90	lung:	n/a	n/a
37	CEBPB	chrX:63956572-63956735	K562	blood:	n/a	n/a
38	CEBPB	chrX:63979276-63979329	IMR90	lung:	n/a	n/a
39	CEBPB	chrX:63573793-63574050	IMR90	lung:	n/a	n/a
40	CEBPB	chrX:63781044-63781303	HepG2	liver:	n/a	chrX:63781119-63781130
41	CEBPB	chrX:64003551-64003854	HepG2	liver:	n/a	chrX:64003695-64003706
42	CEBPB	chrX:63922751-63923021	IMR90	lung:	n/a	n/a
43	CEBPB	chrX:63657160-63657296	A549	lung:	n/a	chrX:63657222-63657233
44	CEBPB	chrX:63781054-63781271	IMR90	lung:	n/a	chrX:63781119-63781130
45	CEBPB	chrX:63753696-63753893	IMR90	lung:	n/a	n/a
46	CEBPB	chrX:63685601-63685658	K562	blood:	n/a	n/a
47	CEBPB	chrX:64003529-64003850	IMR90	lung:	n/a	chrX:64003695-64003706
48	CEBPB	chrX:63807677-63807930	IMR90	lung:	n/a	n/a
49	CEBPB	chrX:63753668-63753863	A549	lung:	n/a	n/a
50	CEBPB	chrX:63657184-63657393	HepG2	liver:	n/a	chrX:63657222-63657233

(count:857 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chrX:63615366-63615416	Hepatocyte	liver:	n/a
2	chrX:63615383-63615433	GM12878	blood:	n/a
3	chrX:63615456-63615506	SK-N-SH_RA	brain:	n/a
4	chrX:63615366-63615416	Hepatocyte	liver:	n/a
5	chrX:63615383-63615433	GM12878	blood:	n/a
6	chrX:63615456-63615506	SK-N-SH_RA	brain:	n/a
7	chrX:63614857-63614907	GM12878	blood:	n/a
8	chrX:63616177-63616227	PrEC	prostate:	n/a
9	chrX:63615495-63615545	HEK293	kidney:	embryo
10	chrX:63615366-63615416	SK-N-MC	brain:	n/a
11	chrX:63615366-63615416	HL-60	blood:	n/a
12	chrX:63616177-63616227	SK-N-SH_RA	brain:	n/a
13	chrX:63616425-63616475	CMK	blood:	n/a
14	chrX:63616811-63616861	NHBE	bronchial:	n/a
15	chrX:63617742-63617792	Hela-S3	cervix:	n/a
16	chrX:63617742-63617792	CMK	blood:	n/a
17	chrX:63615339-63615389	SAEC	small airway:	n/a
18	chrX:63615380-63615430	AG04450	lung:	fetal
19	chrX:63615383-63615433	HRCEpiC	kidney:	n/a
20	chrX:63614857-63614907	H1-hESC	embryonic stem cell:	embryo
21	chrX:63615339-63615389	HCPEpiC	choroid plexus:	n/a
22	chrX:63613026-63613076	MCF10A-Er-Src	breast:	n/a
23	chrX:63615185-63615235	MCF-7	breast:	n/a
24	chrX:63615339-63615389	K562	blood:	n/a
25	chrX:63613026-63613076	SK-N-SH	brain:	n/a
26	chrX:63613026-63613076	HPAEpiC	pulmonary alveolar:	n/a
27	chrX:63614980-63615030	T-47D	breast:	n/a
28	chrX:63616425-63616475	NHDF-neo	bronchial:	n/a
29	chrX:63614980-63615030	RPTEC	kidney:	n/a
30	chrX:63614857-63614907	CMK	blood:	n/a
31	chrX:63616177-63616227	HCPEpiC	choroid plexus:	n/a
32	chrX:63615495-63615545	PrEC	prostate:	n/a
33	chrX:63615366-63615416	BJ	skin:	n/a
34	chrX:63615380-63615430	GM12878	blood:	n/a
35	chrX:63615366-63615416	PFSK-1	brain:	n/a
36	chrX:63616177-63616227	SK-N-SH	brain:	n/a
37	chrX:63616177-63616227	SK-N-MC	brain:	n/a
38	chrX:63617742-63617792	PANC-1	pancreas:	n/a
39	chrX:63617742-63617792	HCT-116	colon:	n/a
40	chrX:63615456-63615506	Jurkat	blood:	n/a
41	chrX:63616177-63616227	ProgFib	skin:	n/a
42	chrX:63614980-63615030	NB4	blood:	n/a
43	chrX:63615456-63615506	SAEC	small airway:	n/a
44	chrX:63616177-63616227	PANC-1	pancreas:	n/a
45	chrX:63613026-63613076	HCF	heart:	n/a
46	chrX:63615185-63615235	PrEC	prostate:	n/a
47	chrX:63615456-63615506	LNCaP	prostate:	n/a
48	chrX:63614980-63615030	SK-N-SH	brain:	n/a
49	chrX:63616425-63616475	GM12892	blood:	n/a
50	chrX:63615339-63615389	AG09319	gingival:	n/a

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chrX:63547486..63550122-chrX:63556882..63559507,2	K562	blood:
2	chrX:64113359..64115276-chrX:64138748..64140389,2	K562	blood:
3	chrX:63563598..63565528-chrX:63566953..63569059,2	K562	blood:
4	chrX:63563598..63565528-chrX:63566953..63569059,2	K562	blood:
5	chrX:64114357..64115134-chrX:64416597..64417121,2	MCF-7	breast:
6	chrX:63789888..63790619-chrX:64114421..64115004,2	MCF-7	breast:
7	chrX:63896768..63899610-chrX:63901528..63903718,2	MCF-7	breast:
8	chrX:64114179..64116080-chrX:64671316..64672190,5	MCF-7	breast:
9	chrX:63789888..63790619-chrX:64114421..64115004,2	MCF-7	breast:
10	chrX:63896768..63899610-chrX:63901528..63903718,2	MCF-7	breast:
11	chrX:64114516..64115212-chrX:64671367..64671939,2	MCF-7	breast:
12	chrX:63564028..63566405-chrX:63566842..63568453,2	K562	blood:
13	chrX:63547486..63550122-chrX:63556882..63559507,2	K562	blood:

No data

Variant related genes	Relation type
KRT8P27	TF binding region
MTMR8	TF binding region
ENSG00000213754	TF binding region
YWHAZP7	TF binding region
SHC1P1	TF binding region
ENSG00000236982	TF binding region
GRPEL2P2	TF binding region
KRT8P27	CpG island
MTMR8	CpG island
ENSG00000213754	CpG island
YWHAZP7	CpG island
SHC1P1	CpG island
ENSG00000236982	CpG island
GRPEL2P2	CpG island
ENSG00000126970	chromatin interactions
ENSG00000102043	chromatin interactions

Extended variants
information (count: 3346 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:3346 , 50 per page) page: 1 2 3 4 5 6 7 ... 67

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375557322	chrX:63511056-63511057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs146915160	chrX:63511058-63511059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs138638697	chrX:63511256-63511257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs141152282	chrX:63511262-63511263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191736824	chrX:63511414-63511415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs184704666	chrX:63511479-63511480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs188884040	chrX:63511520-63511521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182160562	chrX:63511616-63511617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs185543951	chrX:63511625-63511626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs531151042	chrX:63511641-63511642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs369843009	chrX:63511717-63511718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs189255291	chrX:63511773-63511774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs372473377	chrX:63511839-63511840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs143482329	chrX:63511911-63511912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs181032710	chrX:63511937-63511938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs543005773	chrX:63511980-63511981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs185049087	chrX:63512091-63512092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs372065444	chrX:63512130-63512131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs201149312	chrX:63512145-63512146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs190291988	chrX:63512166-63512167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs181040800	chrX:63512233-63512234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs185912755	chrX:63512293-63512294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs375900618	chrX:63512303-63512304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs191709292	chrX:63512339-63512340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs183978508	chrX:63512602-63512603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs369217401	chrX:63512604-63512605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs189178354	chrX:63512639-63512640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs7888522	chrX:63512656-63512657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs191907554	chrX:63512657-63512658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs148011261	chrX:63512745-63512746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs572294183	chrX:63512771-63512772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs373434705	chrX:63512832-63512833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs182429772	chrX:63512833-63512834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs7889755	chrX:63512863-63512864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs141711911	chrX:63512878-63512879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs150562038	chrX:63512892-63512893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs16990392	chrX:63512975-63512976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs186777626	chrX:63512993-63512994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs546124279	chrX:63512998-63512999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs564752982	chrX:63513045-63513046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141837309	chrX:63513051-63513052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7877423	chrX:63513057-63513058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7877586	chrX:63513192-63513193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7892723	chrX:63513259-63513260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs146281487	chrX:63513308-63513309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112845656	chrX:63513387-63513388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528528104	chrX:63513915-63513916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191783754	chrX:63513921-63513922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs149776310	chrX:63513970-63513971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs144711381	chrX:63514136-63514137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:42)

Disease	PMID	Source
Intellectual disability	23615299	CNVD
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
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	22286061	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	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
Wilms tumour	17204608	CNVD
craniofacial dysmorphism	21918468	CNVD
Astrocytoma	22246337	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
turner syndrome	20570968	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:918 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:63511000-63513000	Enhancers	K562	blood
2	chrX:63513000-63515800	Weak transcription	K562	blood
3	chrX:63521600-63525600	Weak transcription	Ovary	ovary
4	chrX:63522000-63522400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chrX:63522000-63522400	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chrX:63522000-63523000	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chrX:63522200-63522800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
8	chrX:63522800-63523200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chrX:63524800-63544400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chrX:63525600-63526000	ZNF genes & repeats	Ovary	ovary
11	chrX:63526600-63527000	ZNF genes & repeats	Pancreas	Pancrea
12	chrX:63527000-63529800	Weak transcription	Pancreas	Pancrea
13	chrX:63529800-63530000	ZNF genes & repeats	Pancreas	Pancrea
14	chrX:63530000-63534000	Weak transcription	Pancreas	Pancrea
15	chrX:63532200-63563600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chrX:63533400-63541200	Weak transcription	Primary B cells from peripheral blood	blood
17	chrX:63534000-63535000	ZNF genes & repeats	Pancreas	Pancrea
18	chrX:63534000-63535200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chrX:63534200-63534600	ZNF genes & repeats	Gastric	stomach
20	chrX:63534200-63542600	Weak transcription	Thymus	Thymus
21	chrX:63534400-63535200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
22	chrX:63534600-63542400	Weak transcription	Gastric	stomach
23	chrX:63534800-63535200	ZNF genes & repeats	Aorta	Aorta
24	chrX:63535200-63542400	Weak transcription	Aorta	Aorta
25	chrX:63536600-63542400	Weak transcription	Pancreas	Pancrea
26	chrX:63537600-63544000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chrX:63538200-63552600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chrX:63538600-63541400	Weak transcription	Primary T cells fromperipheralblood	blood
29	chrX:63538600-63542600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chrX:63538800-63540000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chrX:63538800-63541600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chrX:63538800-63542400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chrX:63539000-63542000	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chrX:63539000-63558600	Weak transcription	Left Ventricle	heart
35	chrX:63539200-63540200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chrX:63539400-63559000	Weak transcription	Rectal Smooth Muscle	rectum
37	chrX:63539800-63542800	Weak transcription	Spleen	Spleen
38	chrX:63540000-63546800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chrX:63540200-63540400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
40	chrX:63540200-63540600	ZNF genes & repeats	Lung	lung
41	chrX:63540200-63540600	ZNF genes & repeats	Ovary	ovary
42	chrX:63540200-63540600	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
43	chrX:63540200-63540800	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
44	chrX:63540200-63541000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
45	chrX:63540200-63544400	ZNF genes & repeats	Dnd41	blood
46	chrX:63540200-63546000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chrX:63540400-63542200	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chrX:63540400-63542400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chrX:63540400-63542800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chrX:63540600-63542000	Weak transcription	Lung	lung

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