Variant report

Variant	rs370481709
Chromosome Location	chrX:154775540-154775541
allele	C/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	GATA3	chrX:154775485-154775661	SH-SY5Y	brain:	n/a	n/a
2	MAFK	chrX:154775441-154775665	IMR90	lung:	n/a	chrX:154775549-154775564
3	MAFF	chrX:154775441-154775606	K562	blood:	n/a	n/a
4	MAFK	chrX:154775444-154775726	HepG2	liver:	n/a	chrX:154775549-154775564
5	MAFK	chrX:154775436-154775716	HepG2	liver:	n/a	chrX:154775549-154775564
6	MAFK	chrX:154775521-154775621	K562	blood:	n/a	chrX:154775549-154775564

Variant related genes	Relation type
TMLHE	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv29972	chrX:154418093-154929412	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv532965	chrX:154418093-155226096	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv532967	chrX:154418093-155252027	Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv915940	chrX:154577793-155232907	Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv534441	chrX:154664337-155251871	Weak transcription Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv818043	chrX:154737376-154777564	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv519485	chrX:154737376-154929412	Weak transcription Active TSS ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv869305	chrX:154739403-155190347	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
9	nsv916736	chrX:154762193-155232894	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
10	nsv438162	chrX:154774663-154777564	Weak transcription ZNF genes & repeats Strong transcription Active TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv520699	chrX:154774663-154929412	Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:154734600-154777000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chrX:154752400-154776400	Weak transcription	Psoas Muscle	Psoas
3	chrX:154752400-154776600	Weak transcription	Fetal Heart	heart
4	chrX:154756200-154777000	Weak transcription	Left Ventricle	heart
5	chrX:154757000-154785800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chrX:154764800-154776800	Weak transcription	K562	blood
7	chrX:154766200-154776000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chrX:154767400-154775600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chrX:154771800-154776400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chrX:154771800-154776400	Weak transcription	Brain Anterior Caudate	brain
11	chrX:154772200-154775800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chrX:154772200-154777200	Weak transcription	Stomach Smooth Muscle	stomach
13	chrX:154772400-154775600	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chrX:154772400-154778000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chrX:154772800-154776000	Weak transcription	Placenta	Placenta
16	chrX:154773000-154775600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chrX:154773000-154775600	Weak transcription	Thymus	Thymus
18	chrX:154773200-154775600	Weak transcription	Fetal Thymus	thymus
19	chrX:154773400-154776400	Strong transcription	Primary hematopoietic stem cells	blood
20	chrX:154773600-154775800	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chrX:154773800-154776400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chrX:154773800-154787000	Weak transcription	Brain Angular Gyrus	brain
23	chrX:154774000-154776000	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chrX:154774000-154776000	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chrX:154774000-154778000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chrX:154774200-154775800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chrX:154774200-154775800	Weak transcription	A549	lung
28	chrX:154774200-154776400	Weak transcription	Liver	Liver
29	chrX:154774200-154776600	Weak transcription	Placenta Amnion	Placenta Amnion
30	chrX:154774400-154776000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chrX:154774400-154776000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chrX:154774400-154776000	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chrX:154774400-154776200	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chrX:154774400-154776600	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chrX:154774400-154778200	Weak transcription	Primary B cells from peripheral blood	blood
36	chrX:154774600-154776000	Weak transcription	Fetal Stomach	stomach
37	chrX:154774600-154776200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chrX:154774600-154777400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chrX:154774600-154779200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chrX:154774800-154776400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chrX:154774800-154776400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chrX:154774800-154776600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chrX:154774800-154777000	Weak transcription	Duodenum Mucosa	Duodenum
44	chrX:154774800-154778200	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chrX:154774800-154778600	Weak transcription	Brain Germinal Matrix	brain
46	chrX:154775000-154776000	Weak transcription	Fetal Muscle Leg	muscle
47	chrX:154775000-154776400	Weak transcription	Ovary	ovary
48	chrX:154775000-154776600	Weak transcription	Primary T cells fromperipheralblood	blood
49	chrX:154775000-154776600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chrX:154775000-154776600	Weak transcription	Fetal Intestine Large	intestine

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