Variant report

Variant	rs1927223
Chromosome Location	chrX:56754961-56754962
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	MYC	chrX:56754789-56755143	MCF10A-Er-Src	breast:	n/a	chrX:56754956-56754975 chrX:56754959-56754969 chrX:56754961-56754970 chrX:56754960-56754971 chrX:56754960-56754970 chrX:56754959-56754972 chrX:56754960-56754971
2	POLR2A	chrX:56754711-56756132	GM12891	blood:	n/a	n/a
3	TBP	chrX:56754734-56756188	Hela-S3	cervix:	n/a	n/a
4	RFX5	chrX:56754788-56756698	Hela-S3	cervix:	n/a	n/a
5	MAX	chrX:56754796-56755122	Hela-S3	cervix:	n/a	chrX:56754956-56754975 chrX:56754959-56754969 chrX:56754961-56754970 chrX:56754960-56754971 chrX:56754960-56754970 chrX:56754959-56754972 chrX:56754960-56754971
6	MYC	chrX:56754848-56755100	NB4	blood:	n/a	chrX:56754956-56754975 chrX:56754959-56754969 chrX:56754961-56754970 chrX:56754960-56754971 chrX:56754960-56754970 chrX:56754959-56754972 chrX:56754960-56754971
7	USF2	chrX:56754779-56755148	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chrX:56754724-56755021	SK-N-SH	brain:	n/a	n/a
9	RCOR1	chrX:56754836-56756120	Hela-S3	cervix:	n/a	n/a
10	USF1	chrX:56754835-56755034	H1-hESC	embryonic stem cell:	n/a	n/a
11	MAFK	chrX:56754807-56755260	Hela-S3	cervix:	n/a	n/a
12	USF1	chrX:56754765-56755118	ECC-1	luminal epithelium:	n/a	n/a
13	USF1	chrX:56754816-56755109	A549	lung:	n/a	n/a
14	USF1	chrX:56754760-56755107	SK-N-SH_RA	brain:	n/a	n/a
15	USF1	chrX:56754824-56755107	A549	lung:	n/a	n/a
16	MAFK	chrX:56754897-56755114	H1-hESC	embryonic stem cell:	n/a	n/a
17	MYC	chrX:56754803-56755088	K562	blood:	n/a	chrX:56754956-56754975 chrX:56754959-56754969 chrX:56754961-56754970 chrX:56754960-56754971 chrX:56754960-56754970 chrX:56754959-56754972 chrX:56754960-56754971
18	USF1	chrX:56754746-56755089	ECC-1	luminal epithelium:	n/a	n/a
19	ZNF143	chrX:56754826-56755143	GM12878	blood:	n/a	n/a
20	USF2	chrX:56754796-56755090	GM12878	blood:	n/a	n/a
21	USF1	chrX:56754776-56755177	A549	lung:	n/a	n/a
22	MYC	chrX:56754808-56755132	MCF10A-Er-Src	breast:	n/a	chrX:56754956-56754975 chrX:56754959-56754969 chrX:56754961-56754970 chrX:56754960-56754971 chrX:56754960-56754970 chrX:56754959-56754972 chrX:56754960-56754971
23	USF1	chrX:56754821-56754984	SK-N-SH_RA	brain:	n/a	n/a
24	USF1	chrX:56754792-56755118	A549	lung:	n/a	n/a
25	MAX	chrX:56754709-56755351	NB4	blood:	n/a	chrX:56754956-56754975 chrX:56754959-56754969 chrX:56754961-56754970 chrX:56754960-56754971 chrX:56754960-56754970 chrX:56754959-56754972 chrX:56754960-56754971
26	USF1	chrX:56754758-56755033	H1-hESC	embryonic stem cell:	n/a	n/a
27	USF1	chrX:56754681-56755198	HCT-116	colon:	n/a	n/a
28	USF1	chrX:56754804-56755064	A549	lung:	n/a	n/a
29	MAFK	chrX:56754913-56755815	IMR90	lung:	n/a	n/a
30	USF1	chrX:56754703-56755160	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chrX:56589521..56592004-chrX:56754888..56757482,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000204272	TF binding region
ENSG00000188021	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752678	chrX:55930768-56851953	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv2753382	chrX:55930768-56851953	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv2754448	chrX:55930768-56851953	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2755974	chrX:55930768-56851953	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv432333	chrX:55930768-56851953	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	esv2756104	chrX:56292362-56824154	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	esv2754937	chrX:56482424-56851953	Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
8	esv3362942	chrX:56719980-56761482	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	esv2758569	chrX:56739069-56887748	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	esv2758867	chrX:56739069-56887748	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:56752800-56755200	Enhancers	Liver	Liver
2	chrX:56753600-56755000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chrX:56754000-56755200	Enhancers	Brain Hippocampus Middle	brain
4	chrX:56754400-56755000	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chrX:56754400-56755200	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chrX:56754600-56755000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
7	chrX:56754600-56755000	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chrX:56754600-56755400	Flanking Active TSS	Dnd41	blood
9	chrX:56754600-56755600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chrX:56754600-56757600	Active TSS	A549	lung
11	chrX:56754600-56757800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chrX:56754800-56755000	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chrX:56754800-56755000	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chrX:56754800-56755000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chrX:56754800-56755000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chrX:56754800-56755000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chrX:56754800-56755000	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chrX:56754800-56755200	Enhancers	H1 Cell Line	embryonic stem cell
19	chrX:56754800-56755200	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chrX:56754800-56755200	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chrX:56754800-56755200	Enhancers	Fetal Intestine Small	intestine
22	chrX:56754800-56755200	Bivalent Enhancer	Fetal Kidney	kidney
23	chrX:56754800-56755200	Enhancers	Hela-S3	cervix
24	chrX:56754800-56755600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chrX:56754800-56757200	Active TSS	Muscle Satellite Cultured Cells	--
26	chrX:56754800-56757200	Active TSS	Brain Angular Gyrus	brain
27	chrX:56754800-56757200	Active TSS	NHDF-Ad	bronchial
28	chrX:56754800-56757400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chrX:56754800-56757400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chrX:56754800-56757400	Active TSS	NH-A	brain
31	chrX:56754800-56757600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chrX:56754800-56757600	Active TSS	HUES64 Cell Line	embryonic stem cell
33	chrX:56754800-56758600	Active TSS	ES-I3 Cell Line	embryonic stem cell

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