Variant report

Variant	rs56783764
Chromosome Location	chrX:139015481-139015482
allele	-/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:256)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:256 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chrX:139014429-139016020	HCT-116	colon:	n/a	n/a
2	TBL1XR1	chrX:139015101-139015779	K562	blood:	n/a	n/a
3	POLR2A	chrX:139013935-139016007	GM15510	blood:	n/a	n/a
4	MYC	chrX:139012928-139016014	K562	blood:	n/a	chrX:139014278-139014287
5	RUNX3	chrX:139014939-139015547	GM12878	blood:	n/a	n/a
6	MAX	chrX:139014034-139015926	K562	blood:	n/a	chrX:139014278-139014287
7	POLR2A	chrX:139013915-139016114	MCF-7	breast:	n/a	n/a
8	MTA3	chrX:139014911-139015581	GM12878	blood:	n/a	n/a
9	REST	chrX:139015309-139015565	HepG2	liver:	n/a	n/a
10	POLR2A	chrX:139013982-139015998	K562	blood:	n/a	n/a
11	CTCF	chrX:139015289-139015486	Gliobla	brain:	n/a	n/a
12	BRCA1	chrX:139015405-139015599	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chrX:139014672-139016168	PFSK-1	brain:	n/a	n/a
14	RAD21	chrX:139015120-139015566	SK-N-SH_RA	brain:	n/a	n/a
15	POLR2A	chrX:139014072-139016003	K562	blood:	n/a	n/a
16	CEBPB	chrX:139015428-139015628	H1-hESC	embryonic stem cell:	n/a	chrX:139015512-139015523 chrX:139015512-139015523
17	CTCF	chrX:139015360-139015510	HCFaa	heart:	n/a	n/a
18	POLR2A	chrX:139014079-139016038	K562	blood:	n/a	n/a
19	CTCF	chrX:139015340-139015490	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chrX:139012783-139016038	GM12891	blood:	n/a	n/a
21	POLR2A	chrX:139014096-139016018	IMR90	lung:	n/a	n/a
22	MAZ	chrX:139014243-139015987	HepG2	liver:	n/a	chrX:139014278-139014287
23	TCF12	chrX:139015041-139015528	ECC-1	luminal epithelium:	n/a	n/a
24	UBTF	chrX:139012818-139015888	K562	blood:	n/a	n/a
25	CHD1	chrX:139015452-139015834	H1-hESC	embryonic stem cell:	n/a	chrX:139015813-139015823
26	GTF2B	chrX:139015041-139015521	K562	blood:	n/a	n/a
27	SIX5	chrX:139015221-139015505	K562	blood:	n/a	chrX:139015316-139015325 chrX:139015314-139015323
28	SIN3AK20	chrX:139014804-139016127	MCF-7	breast:	n/a	n/a
29	POLR2A	chrX:139013976-139016114	HUVEC	blood vessel:	n/a	n/a
30	GTF2F1	chrX:139015161-139016003	Hela-S3	cervix:	n/a	n/a
31	ELF1	chrX:139015272-139015518	K562	blood:	n/a	chrX:139015404-139015417
32	POLR2A	chrX:139014075-139016071	NB4	blood:	n/a	n/a
33	POLR2A	chrX:139014019-139015660	GM12878	blood:	n/a	n/a
34	POLR2A	chrX:139015289-139015958	HUVEC	blood vessel:	n/a	n/a
35	POLR2A	chrX:139014520-139016044	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chrX:139015291-139015518	GM10266	blood:	n/a	n/a
37	POLR2A	chrX:139015405-139015937	SK-N-SH	brain:	n/a	n/a
38	CTCF	chrX:139015283-139015481	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chrX:139014677-139015984	GM12878	blood:	n/a	n/a
40	POLR2A	chrX:139014817-139015979	HUVEC	blood vessel:	n/a	n/a
41	MAX	chrX:139014594-139015908	HepG2	liver:	n/a	n/a
42	POLR2A	chrX:139014031-139016049	HEK293	kidney:	n/a	n/a
43	SIN3AK20	chrX:139014967-139015555	SK-N-SH	brain:	n/a	n/a
44	BRCA1	chrX:139015279-139015665	Hela-S3	cervix:	n/a	n/a
45	CTCF	chrX:139015277-139015512	Fibrobl	skin:	n/a	n/a
46	POLR2A	chrX:139014902-139015895	K562	blood:	n/a	n/a
47	CTCF	chrX:139014874-139015585	GM12878	blood:	n/a	n/a
48	PML	chrX:139014790-139015780	GM12878	blood:	n/a	n/a
49	YY1	chrX:139015228-139015502	GM12878	blood:	n/a	chrX:139015298-139015312
50	MYC	chrX:139015349-139015568	MCF-7	breast:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:4853164..4854128-chrX:139015400..139015911,2	Hela-S3	cervix:
2	chrX:139013823..139015726-chrX:139026324..139028127,2	MCF-7	breast:
3	chr11:122932486..122933259-chrX:139015343..139016082,2	NB4	blood:
4	chrX:139003030..139006775-chrX:139014135..139016470,3	MCF-7	breast:
5	chrX:138772808..138775259-chrX:139014635..139016368,2	MCF-7	breast:
6	chr19:30432737..30433705-chrX:139015015..139015718,2	Hela-S3	cervix:
7	chr16:81737296..81737796-chrX:139014881..139015641,2	NB4	blood:

No data

Variant related genes	Relation type
ATP11C	TF binding region
ENSG00000108515	Chromatin interaction
ENSG00000153815	Chromatin interaction
ENSG00000207633	Chromatin interaction
ENSG00000101977	Chromatin interaction
ENSG00000109971	Chromatin interaction
ENSG00000105176	Chromatin interaction
ENSG00000101974	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532936	chrX:138687855-139384681	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
2	nsv491760	chrX:138780768-139283477	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
3	nsv917353	chrX:138912620-139283492	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	146 gene(s)	inside rSNPs	diseases
4	esv3365935	chrX:139012861-139016459	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
5	esv2562776	chrX:139015481-139015481	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
6	esv2414444	chrX:139015481-139015482	Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:139011000-139016000	Active TSS	GM12878-XiMat	blood
2	chrX:139011800-139016800	Active TSS	HepG2	liver
3	chrX:139012000-139016000	Active TSS	NHEK	skin
4	chrX:139012200-139016000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chrX:139012200-139016200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
6	chrX:139012200-139016200	Active TSS	NHDF-Ad	bronchial
7	chrX:139012200-139016400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chrX:139012200-139016400	Active TSS	NHLF	lung
9	chrX:139012400-139016200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chrX:139012400-139016400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chrX:139012600-139015800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chrX:139012600-139015800	Active TSS	Primary hematopoietic stem cells short term culture	blood
13	chrX:139012600-139016000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chrX:139012600-139016000	Bivalent/Poised TSS	Fetal Brain Female	brain
15	chrX:139012600-139016200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chrX:139012800-139015600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chrX:139012800-139016000	Active TSS	H1 Cell Line	embryonic stem cell
18	chrX:139012800-139016000	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chrX:139012800-139016200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chrX:139012800-139016200	Active TSS	Ovary	ovary
21	chrX:139012800-139016200	Active TSS	Right Atrium	heart
22	chrX:139012800-139016400	Active TSS	Duodenum Smooth Muscle	Duodenum
23	chrX:139012800-139016400	Active TSS	Thymus	Thymus
24	chrX:139012800-139016600	Active TSS	Fetal Intestine Large	intestine
25	chrX:139012800-139016600	Active TSS	Rectal Mucosa Donor 31	rectum
26	chrX:139013000-139015800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
27	chrX:139013000-139015800	Active TSS	Fetal Thymus	thymus
28	chrX:139013000-139015800	Active TSS	HMEC	breast
29	chrX:139013000-139015800	Active TSS	K562	blood
30	chrX:139013000-139015800	Active TSS	NH-A	brain
31	chrX:139013000-139016000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chrX:139013000-139016000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chrX:139013000-139016000	Active TSS	HUES48 Cell Line	embryonic stem cell
34	chrX:139013000-139016000	Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chrX:139013000-139016200	Active TSS	H9 Cell Line	embryonic stem cell
36	chrX:139013000-139016200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chrX:139013000-139016200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chrX:139013000-139016200	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
39	chrX:139013000-139016200	Active TSS	Muscle Satellite Cultured Cells	--
40	chrX:139013000-139016200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chrX:139013000-139016200	Active TSS	Colonic Mucosa	Colon
42	chrX:139013000-139016400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chrX:139013000-139016400	Active TSS	HSMM	muscle
44	chrX:139013000-139016400	Active TSS	Osteobl	bone
45	chrX:139013000-139016600	Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chrX:139013000-139016600	Active TSS	Liver	Liver
47	chrX:139013000-139016600	Active TSS	Fetal Intestine Small	intestine
48	chrX:139013000-139016600	Active TSS	Rectal Smooth Muscle	rectum
49	chrX:139013000-139016600	Active TSS	A549	lung
50	chrX:139013200-139015600	Active TSS	Primary T cells fromperipheralblood	blood

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