Variant report

Variant	esv3447048
Chromosome Location	chrX:64153980-64196277
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:168)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:168 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chrX:64177031-64177223	GM12878	blood:	n/a	n/a
2	CEBPB	chrX:64163605-64163937	IMR90	lung:	n/a	chrX:64163769-64163780
3	CEBPB	chrX:64163677-64163870	K562	blood:	n/a	chrX:64163769-64163780
4	CEBPB	chrX:64163623-64163932	HepG2	liver:	n/a	chrX:64163769-64163780
5	CHD2	chrX:64195481-64195681	HepG2	liver:	n/a	n/a
6	CHD2	chrX:64195471-64195875	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chrX:64195417-64195493	A549	lung:	n/a	n/a
8	CTCF	chrX:64165423-64165451	ProgFib	skin:	n/a	n/a
9	CTCF	chrX:64176784-64176860	LNCaP	prostate:	n/a	n/a
10	CTCF	chrX:64195438-64195456	GM10266	blood:	n/a	n/a
11	CTCF	chrX:64157685-64157807	GM10248	blood:	n/a	n/a
12	CTCF	chrX:64170179-64170246	ProgFib	skin:	n/a	n/a
13	CTCF	chrX:64196227-64196343	Pancreas_OC	pancreas:	n/a	n/a
14	CTCF	chrX:64195409-64195446	ProgFib	skin:	n/a	n/a
15	CTCF	chrX:64155994-64156074	LNCaP	prostate:	n/a	n/a
16	CTCF	chrX:64195340-64195490	SK-N-SH_RA	brain:	n/a	n/a
17	CTCF	chrX:64185900-64186050	GM12869	blood:	n/a	n/a
18	CTCF	chrX:64195380-64195530	BJ	skin:	n/a	n/a
19	CTCF	chrX:64170251-64170252	ProgFib	skin:	n/a	n/a
20	CTCF	chrX:64195400-64195550	AG04449	skin:	n/a	n/a
21	CTCF	chrX:64165371-64165399	Medullo	brain:	n/a	n/a
22	CTCF	chrX:64195320-64195470	GM12873	blood:	n/a	n/a
23	CTCF	chrX:64185980-64186130	HEK293	kidney:	n/a	n/a
24	CTCF	chrX:64195320-64195470	SK-N-SH_RA	brain:	n/a	n/a
25	CTCF	chrX:64155258-64155319	A549	lung:	n/a	n/a
26	CTCF	chrX:64195360-64195510	HEK293	kidney:	n/a	n/a
27	E2F4	chrX:64196275-64196477	MCF10A-Er-Src	breast:	n/a	n/a
28	E2F4	chrX:64195460-64195722	MCF10A-Er-Src	breast:	n/a	chrX:64195695-64195709 chrX:64195698-64195712
29	E2F4	chrX:64192418-64192590	MCF10A-Er-Src	breast:	n/a	n/a
30	E2F6	chrX:64195482-64195822	H1-hESC	embryonic stem cell:	n/a	chrX:64195695-64195709 chrX:64195698-64195712
31	E2F6	chrX:64195186-64195636	H1-hESC	embryonic stem cell:	n/a	n/a
32	ELF1	chrX:64196122-64196628	HCT-116	colon:	n/a	n/a
33	ELF1	chrX:64196256-64196545	K562	blood:	n/a	n/a
34	ELF1	chrX:64196157-64196631	HepG2	liver:	n/a	n/a
35	ELF1	chrX:64196264-64196593	HepG2	liver:	n/a	n/a
36	ELF1	chrX:64196263-64196623	K562	blood:	n/a	n/a
37	ELF1	chrX:64196200-64196696	GM12878	blood:	n/a	n/a
38	ELF1	chrX:64196148-64196706	SK-N-SH	brain:	n/a	n/a
39	ELF1	chrX:64196232-64196646	GM12878	blood:	n/a	n/a
40	ELF1	chrX:64196072-64196800	HCT-116	colon:	n/a	n/a
41	ELF1	chrX:64196208-64196563	MCF-7	breast:	n/a	n/a
42	ELK1	chrX:64183797-64183889	GM12878	blood:	n/a	n/a
43	EP300	chrX:64196253-64196551	SK-N-SH_RA	brain:	n/a	n/a
44	ETS1	chrX:64196207-64196535	GM12878	blood:	n/a	chrX:64196446-64196453 chrX:64196442-64196455 chrX:64196441-64196454
45	ETS1	chrX:64196212-64196622	A549	lung:	n/a	chrX:64196446-64196453 chrX:64196442-64196455 chrX:64196441-64196454
46	FOS	chrX:64177127-64177376	MCF10A-Er-Src	breast:	n/a	n/a
47	FOS	chrX:64191342-64191443	MCF10A-Er-Src	breast:	n/a	n/a
48	FOS	chrX:64177145-64177357	MCF10A-Er-Src	breast:	n/a	n/a
49	FOS	chrX:64188501-64188676	MCF10A-Er-Src	breast:	n/a	n/a
50	FOS	chrX:64177063-64177377	MCF10A-Er-Src	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chrX:64195554-64195604	Hela-S3	cervix:	n/a
2	chrX:64195554-64195604	AG04449	skin:	fetal
3	chrX:64195554-64195604	BE2_C	brain:	n/a
4	chrX:64195554-64195604	SKMC	muscle:	n/a
5	chrX:64195554-64195604	HPAEpiC	pulmonary alveolar:	n/a
6	chrX:64195554-64195604	SK-N-MC	brain:	n/a
7	chrX:64195554-64195604	AoSMC	blood vessel:	n/a
8	chrX:64195554-64195604	HAEpiC	amniotic membrane:	n/a
9	chrX:64195554-64195604	Caco-2	colon:	n/a
10	chrX:64195554-64195604	NH-A	brain:	n/a
11	chrX:64195554-64195604	ProgFib	skin:	n/a
12	chrX:64195554-64195604	HCT-116	colon:	n/a
13	chrX:64195554-64195604	PANC-1	pancreas:	n/a
14	chrX:64195554-64195604	HRE	kidney:	n/a
15	chrX:64195554-64195604	HNPCEpiC	eye:	n/a
16	chrX:64195554-64195604	AG10803	skin:	n/a
17	chrX:64195554-64195604	BJ	skin:	n/a
18	chrX:64195554-64195604	U87	brain:	n/a
19	chrX:64195554-64195604	HL-60	blood:	n/a
20	chrX:64195554-64195604	GM12892	blood:	n/a
21	chrX:64195554-64195604	RPTEC	kidney:	n/a
22	chrX:64195554-64195604	HEEpiC	esophagus:	n/a
23	chrX:64195554-64195604	HMEC	breast:	n/a
24	chrX:64195554-64195604	Hepatocyte	liver:	n/a
25	chrX:64195554-64195604	ECC-1	luminal epithelium:	n/a
26	chrX:64195554-64195604	Jurkat	blood:	n/a
27	chrX:64195554-64195604	HCPEpiC	choroid plexus:	n/a
28	chrX:64195554-64195604	PrEC	prostate:	n/a
29	chrX:64195554-64195604	H1-hESC	embryonic stem cell:	embryo
30	chrX:64195554-64195604	LNCaP	prostate:	n/a
31	chrX:64195554-64195604	A549	lung:	n/a
32	chrX:64195554-64195604	HCF	heart:	n/a
33	chrX:64195554-64195604	T-47D	breast:	n/a
34	chrX:64195554-64195604	PFSK-1	brain:	n/a
35	chrX:64195554-64195604	AG09319	gingival:	n/a
36	chrX:64195554-64195604	K562	blood:	n/a
37	chrX:64195554-64195604	SK-N-SH_RA	brain:	n/a
38	chrX:64195554-64195604	NB4	blood:	n/a
39	chrX:64195554-64195604	GM06990	blood:	n/a
40	chrX:64195554-64195604	HIPEpiC	eye:	n/a
41	chrX:64195554-64195604	AG04450	lung:	fetal
42	chrX:64195554-64195604	HRPEpiC	eye:	n/a
43	chrX:64195554-64195604	MCF10A-Er-Src	breast:	n/a
44	chrX:64195554-64195604	HEK293	kidney:	embryo
45	chrX:64195554-64195604	SK-N-SH	brain:	n/a
46	chrX:64195554-64195604	GM12891	blood:	n/a
47	chrX:64195554-64195604	HepG2	liver:	n/a
48	chrX:64195554-64195604	NT2-D1	testis:	n/a
49	chrX:64195554-64195604	AG09309	skin:	n/a
50	chrX:64195554-64195604	CMK	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chrX:64192783..64194290-chrX:64194685..64197450,2	K562	blood:

No data

Variant related genes	Relation type
ZC4H2	TF binding region
ZC4H2	CpG island
ENSG00000126970	chromatin interactions

Extended variants
information (count: 398 )
Associated
traits (count: 39 )

Variant overlapped rSNPs/rCNVs (count:398 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192625283	chrX:64154011-64154012	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs564556035	chrX:64154029-64154030	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs185468031	chrX:64154098-64154099	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189940828	chrX:64154139-64154140	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs193027755	chrX:64154173-64154174	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs73512545	chrX:64154218-64154219	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185562472	chrX:64154325-64154326	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs138077599	chrX:64154360-64154361	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs149543114	chrX:64154571-64154572	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189355574	chrX:64154710-64154711	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs144675885	chrX:64154736-64154737	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs180927797	chrX:64154756-64154757	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs111533996	chrX:64154781-64154782	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183727458	chrX:64154797-64154798	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375158399	chrX:64154880-64154881	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs368718798	chrX:64154968-64154969	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs188787546	chrX:64154972-64154973	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181271592	chrX:64154989-64154990	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187135974	chrX:64155048-64155049	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs576509627	chrX:64155173-64155174	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs372175639	chrX:64155232-64155233	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs142823389	chrX:64155305-64155306	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs146098820	chrX:64155486-64155487	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs5964884	chrX:64155767-64155768	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs567902838	chrX:64155798-64155799	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs191628550	chrX:64155828-64155829	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs142396458	chrX:64155829-64155830	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs181617876	chrX:64156083-64156084	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs111985303	chrX:64156174-64156175	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs190767256	chrX:64156260-64156261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182281691	chrX:64156277-64156278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186632223	chrX:64156410-64156411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201854500	chrX:64156745-64156746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191577674	chrX:64156764-64156765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183034210	chrX:64156784-64156785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374769141	chrX:64156814-64156815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139409101	chrX:64156861-64156862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188072008	chrX:64156903-64156904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192946186	chrX:64156919-64156920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs368851639	chrX:64156937-64156938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs77165079	chrX:64156986-64156987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs150072026	chrX:64156988-64156989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs184400543	chrX:64157045-64157046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs76133896	chrX:64157109-64157110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371065479	chrX:64157112-64157113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372901667	chrX:64157182-64157183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188031923	chrX:64157199-64157200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376276988	chrX:64157258-64157259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192450946	chrX:64157403-64157404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs147551645	chrX:64157427-64157428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:39)

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

Chromatin state (count:344 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:64132200-64155200	Weak transcription	Small Intestine	intestine
2	chrX:64139200-64154800	Weak transcription	Thymus	Thymus
3	chrX:64150000-64154400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chrX:64152600-64155200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
5	chrX:64153000-64155200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
6	chrX:64153200-64155600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chrX:64153400-64154800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
8	chrX:64153400-64155400	ZNF genes & repeats	Dnd41	blood
9	chrX:64153600-64154000	ZNF genes & repeats	Fetal Kidney	kidney
10	chrX:64153600-64154400	ZNF genes & repeats	Brain Germinal Matrix	brain
11	chrX:64153600-64154600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
12	chrX:64153600-64155400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
13	chrX:64153600-64156000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
14	chrX:64153600-64156000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
15	chrX:64153600-64156200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chrX:64153800-64154000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chrX:64153800-64154400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chrX:64153800-64154400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chrX:64153800-64154600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
20	chrX:64153800-64155000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
21	chrX:64153800-64155200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
22	chrX:64153800-64155400	ZNF genes & repeats	Aorta	Aorta
23	chrX:64153800-64155600	ZNF genes & repeats	Ovary	ovary
24	chrX:64154200-64155400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
25	chrX:64154400-64154800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chrX:64154600-64155600	ZNF genes & repeats	Fetal Stomach	stomach
27	chrX:64154800-64155400	ZNF genes & repeats	Thymus	Thymus
28	chrX:64155000-64155800	ZNF genes & repeats	Brain Hippocampus Middle	brain
29	chrX:64155000-64156000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chrX:64155600-64165200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chrX:64164400-64165200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
32	chrX:64164400-64165600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chrX:64164400-64167000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
34	chrX:64165000-64166000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
35	chrX:64165000-64166400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chrX:64165000-64166400	ZNF genes & repeats	Dnd41	blood
37	chrX:64165200-64165600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chrX:64165200-64166200	ZNF genes & repeats	Brain Germinal Matrix	brain
39	chrX:64165200-64166400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chrX:64165200-64166400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chrX:64165600-64167800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chrX:64165600-64168000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chrX:64167800-64168000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chrX:64174200-64174600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chrX:64174600-64175000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
46	chrX:64179600-64180600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chrX:64179800-64180600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chrX:64180600-64187000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chrX:64182600-64183400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chrX:64182800-64185600	ZNF genes & repeats	Dnd41	blood

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