Variant report

Variant	rs17250872
Chromosome Location	chrX:55477621-55477622
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	MXI1	chrX:55477609-55479655	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
MAGEH1	TF binding region
ENSG00000266328	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3410436	chrX:55229677-55671986	Enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
2	esv3494957	chrX:55328700-55585199	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	esv3494958	chrX:55328757-55585154	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	nsv469510	chrX:55463837-55570914	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
5	nsv482619	chrX:55463837-55570914	Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:55476800-55477800	Enhancers	Fetal Muscle Leg	muscle
2	chrX:55476800-55478000	Enhancers	Liver	Liver
3	chrX:55477200-55477800	Enhancers	Fetal Intestine Small	intestine
4	chrX:55477200-55478000	Enhancers	Fetal Intestine Large	intestine
5	chrX:55477200-55478000	Enhancers	Fetal Stomach	stomach
6	chrX:55477400-55477800	Enhancers	Brain Anterior Caudate	brain
7	chrX:55477400-55477800	Enhancers	Brain Substantia Nigra	brain
8	chrX:55477400-55477800	Enhancers	Colon Smooth Muscle	Colon
9	chrX:55477400-55477800	Enhancers	Fetal Heart	heart
10	chrX:55477400-55477800	Enhancers	Fetal Kidney	kidney
11	chrX:55477400-55477800	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chrX:55477400-55480000	Active TSS	Colonic Mucosa	Colon
13	chrX:55477600-55477800	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chrX:55477600-55477800	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chrX:55477600-55477800	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chrX:55477600-55477800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chrX:55477600-55477800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chrX:55477600-55477800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chrX:55477600-55477800	Active TSS	Brain Germinal Matrix	brain
20	chrX:55477600-55477800	Enhancers	Brain Hippocampus Middle	brain
21	chrX:55477600-55477800	Enhancers	Brain Inferior Temporal Lobe	brain
22	chrX:55477600-55477800	Enhancers	Fetal Brain Male	brain
23	chrX:55477600-55477800	Enhancers	Rectal Smooth Muscle	rectum
24	chrX:55477600-55477800	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chrX:55477600-55478000	Enhancers	Primary T cells fromperipheralblood	blood
26	chrX:55477600-55478000	Enhancers	Primary hematopoietic stem cells	blood
27	chrX:55477600-55478000	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chrX:55477600-55478000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
29	chrX:55477600-55478000	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chrX:55477600-55478000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
31	chrX:55477600-55478000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chrX:55477600-55478000	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chrX:55477600-55478000	Flanking Active TSS	Fetal Lung	lung
34	chrX:55477600-55478000	Enhancers	Lung	lung
35	chrX:55477600-55478000	Enhancers	Placenta Amnion	Placenta Amnion
36	chrX:55477600-55478200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chrX:55477600-55478200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chrX:55477600-55478200	Flanking Active TSS	Dnd41	blood
39	chrX:55477600-55480000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell

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