Variant report

Variant	rs189299760
Chromosome Location	chrX:55478026-55478027
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	POLR2A	chrX:55477835-55478928	GM12891	blood:	n/a	n/a
2	MXI1	chrX:55477609-55479655	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chrX:55477942-55479233	GM12892	blood:	n/a	n/a
4	POLR2A	chrX:55478021-55478929	H1-neurons	neurons:	n/a	n/a
5	GABPA	chrX:55477943-55478919	MCF-7	breast:	n/a	n/a
6	REST	chrX:55477940-55479352	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:145877632..145880246-chrX:55477813..55479806,2	MCF-7	breast:

Variant related genes	Relation type
MAGEH1	TF binding region
ENSG00000152952	Chromatin interaction

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:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:55477400-55480000	Active TSS	Colonic Mucosa	Colon
2	chrX:55477600-55478200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chrX:55477600-55478200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chrX:55477600-55478200	Flanking Active TSS	Dnd41	blood
5	chrX:55477600-55480000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
6	chrX:55477800-55478200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
7	chrX:55477800-55478200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chrX:55477800-55478200	Flanking Active TSS	Adipose Nuclei	Adipose
9	chrX:55477800-55478200	Flanking Active TSS	Brain Germinal Matrix	brain
10	chrX:55477800-55478200	Flanking Active TSS	Fetal Brain Male	brain
11	chrX:55477800-55478200	Flanking Active TSS	Fetal Heart	heart
12	chrX:55477800-55478400	Active TSS	Fetal Muscle Leg	muscle
13	chrX:55477800-55479200	Active TSS	Stomach Mucosa	stomach
14	chrX:55477800-55479400	Active TSS	A549	lung
15	chrX:55477800-55479600	Bivalent/Poised TSS	Fetal Brain Female	brain
16	chrX:55477800-55479800	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chrX:55477800-55480000	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chrX:55477800-55480000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chrX:55477800-55480000	Active TSS	Brain Angular Gyrus	brain
20	chrX:55477800-55480000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chrX:55477800-55480000	Active TSS	Brain Substantia Nigra	brain
22	chrX:55477800-55480200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chrX:55477800-55480200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chrX:55477800-55480200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chrX:55477800-55480200	Active TSS	Brain Cingulate Gyrus	brain
26	chrX:55477800-55480200	Active TSS	Fetal Intestine Small	intestine
27	chrX:55477800-55480200	Active TSS	GM12878-XiMat	blood
28	chrX:55478000-55478200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chrX:55478000-55478200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
30	chrX:55478000-55478200	Flanking Active TSS	Liver	Liver
31	chrX:55478000-55478200	Active TSS	Fetal Stomach	stomach
32	chrX:55478000-55478400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
33	chrX:55478000-55478400	Flanking Active TSS	Primary B cells from peripheral blood	blood
34	chrX:55478000-55478400	Flanking Active TSS	Primary T cells from cord blood	blood
35	chrX:55478000-55478400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
36	chrX:55478000-55478400	Flanking Active TSS	Primary hematopoietic stem cells	blood
37	chrX:55478000-55478400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
38	chrX:55478000-55478400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
39	chrX:55478000-55478400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
40	chrX:55478000-55478400	Flanking Active TSS	HUVEC	blood vessel
41	chrX:55478000-55478400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
42	chrX:55478000-55478400	Flanking Active TSS	Osteobl	bone
43	chrX:55478000-55478600	Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chrX:55478000-55478800	Active TSS	Primary neutrophils fromperipheralblood	blood
45	chrX:55478000-55478800	Active TSS	Primary B cells from cord blood	blood
46	chrX:55478000-55479000	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
47	chrX:55478000-55479400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
48	chrX:55478000-55479400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chrX:55478000-55479400	Active TSS	Pancreas	Pancrea
50	chrX:55478000-55479400	Active TSS	Skeletal Muscle Male	skeletal muscle

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