Variant report

Variant	rs7055254
Chromosome Location	chrX:57147244-57147245
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chrX:57147203-57147413	MCF-7	breast:	n/a	n/a
2	MYC	chrX:57147216-57147271	MCF-7	breast:	n/a	n/a
3	MXI1	chrX:57147235-57148899	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chrX:57147155-57148340	MCF-7	breast:	n/a	n/a
5	POLR2A	chrX:57147168-57147244	GM12878	blood:	n/a	n/a
6	POLR2A	chrX:57147172-57147345	K562	blood:	n/a	n/a
7	POLR2A	chrX:57147230-57148360	MCF-7	breast:	n/a	n/a
8	POLR2A	chrX:57146613-57148446	HepG2	liver:	n/a	n/a
9	POLR2A	chrX:57147040-57148393	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chrX:57147201-57147267	Gliobla	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000226310	TF binding region
SPIN2B	TF binding region

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3391838	chrX:57144560-57160412	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv3347206	chrX:57147222-57159535	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:57117000-57147800	Weak transcription	Primary B cells from cord blood	blood
2	chrX:57119800-57147400	Weak transcription	Aorta	Aorta
3	chrX:57122000-57147400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chrX:57122000-57147400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chrX:57122000-57147400	Weak transcription	Small Intestine	intestine
6	chrX:57122200-57147400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chrX:57128000-57147400	Weak transcription	Primary B cells from peripheral blood	blood
8	chrX:57141000-57147400	Weak transcription	Placenta	Placenta
9	chrX:57143200-57147400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chrX:57143600-57147400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chrX:57145600-57147400	Weak transcription	Primary hematopoietic stem cells	blood
12	chrX:57147200-57147400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
13	chrX:57147200-57147400	Active TSS	Fetal Muscle Leg	muscle
14	chrX:57147200-57147400	Flanking Active TSS	Hela-S3	cervix
15	chrX:57147200-57147600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
16	chrX:57147200-57147600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
17	chrX:57147200-57147600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
18	chrX:57147200-57147600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chrX:57147200-57147600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chrX:57147200-57147600	Active TSS	Lung	lung
21	chrX:57147200-57147600	Active TSS	Right Atrium	heart
22	chrX:57147200-57147800	Active TSS	Fetal Stomach	stomach
23	chrX:57147200-57148000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chrX:57147200-57148000	Active TSS	Spleen	Spleen
25	chrX:57147200-57148200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
26	chrX:57147200-57148200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
27	chrX:57147200-57148200	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
28	chrX:57147200-57148200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chrX:57147200-57148200	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
30	chrX:57147200-57148400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chrX:57147200-57148400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chrX:57147200-57148400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chrX:57147200-57148400	Active TSS	H9 Cell Line	embryonic stem cell
34	chrX:57147200-57148400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chrX:57147200-57148400	Active TSS	Primary monocytes fromperipheralblood	blood
36	chrX:57147200-57148400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
37	chrX:57147200-57148400	Active TSS	Colonic Mucosa	Colon
38	chrX:57147200-57148400	Active TSS	Esophagus	oesophagus
39	chrX:57147200-57148400	Active TSS	Left Ventricle	heart
40	chrX:57147200-57148400	Active TSS	Pancreas	Pancrea
41	chrX:57147200-57148600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chrX:57147200-57148600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chrX:57147200-57148600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
44	chrX:57147200-57148600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chrX:57147200-57148600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chrX:57147200-57148600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chrX:57147200-57148600	Active TSS	Adipose Nuclei	Adipose
48	chrX:57147200-57148600	Active TSS	Brain Angular Gyrus	brain
49	chrX:57147200-57148600	Active TSS	Brain Anterior Caudate	brain
50	chrX:57147200-57148600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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