Variant report

Variant	rs1927221
Chromosome Location	chrX:56755141-56755142
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	USF2	chrX:56754779-56755148	Hela-S3	cervix:	n/a	n/a
6	RCOR1	chrX:56754836-56756120	Hela-S3	cervix:	n/a	n/a
7	MAFK	chrX:56754807-56755260	Hela-S3	cervix:	n/a	n/a
8	EGR1	chrX:56755116-56755741	HCT-116	colon:	n/a	chrX:56755620-56755633 chrX:56755388-56755402 chrX:56755392-56755401 chrX:56755386-56755401 chrX:56755391-56755404 chrX:56755391-56755404 chrX:56755387-56755394 chrX:56755386-56755408
9	ZNF143	chrX:56755116-56755221	K562	blood:	n/a	n/a
10	ZNF143	chrX:56754826-56755143	GM12878	blood:	n/a	n/a
11	USF1	chrX:56754776-56755177	A549	lung:	n/a	n/a
12	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
13	USF1	chrX:56754681-56755198	HCT-116	colon:	n/a	n/a
14	MAFK	chrX:56754913-56755815	IMR90	lung:	n/a	n/a
15	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: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs7051597	0.86[YRI][hapmap]

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:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:56752800-56755200	Enhancers	Liver	Liver
2	chrX:56754000-56755200	Enhancers	Brain Hippocampus Middle	brain
3	chrX:56754400-56755200	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chrX:56754600-56755400	Flanking Active TSS	Dnd41	blood
5	chrX:56754600-56755600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chrX:56754600-56757600	Active TSS	A549	lung
7	chrX:56754600-56757800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chrX:56754800-56755200	Enhancers	H1 Cell Line	embryonic stem cell
9	chrX:56754800-56755200	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chrX:56754800-56755200	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chrX:56754800-56755200	Enhancers	Fetal Intestine Small	intestine
12	chrX:56754800-56755200	Bivalent Enhancer	Fetal Kidney	kidney
13	chrX:56754800-56755200	Enhancers	Hela-S3	cervix
14	chrX:56754800-56755600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chrX:56754800-56757200	Active TSS	Muscle Satellite Cultured Cells	--
16	chrX:56754800-56757200	Active TSS	Brain Angular Gyrus	brain
17	chrX:56754800-56757200	Active TSS	NHDF-Ad	bronchial
18	chrX:56754800-56757400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chrX:56754800-56757400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chrX:56754800-56757400	Active TSS	NH-A	brain
21	chrX:56754800-56757600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chrX:56754800-56757600	Active TSS	HUES64 Cell Line	embryonic stem cell
23	chrX:56754800-56758600	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chrX:56755000-56755200	Enhancers	Primary B cells from cord blood	blood
25	chrX:56755000-56755200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chrX:56755000-56755200	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chrX:56755000-56755200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chrX:56755000-56755200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chrX:56755000-56755200	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chrX:56755000-56755800	Active TSS	Cortex derived primary cultured neurospheres	brain
31	chrX:56755000-56755800	Active TSS	Osteobl	bone
32	chrX:56755000-56756400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chrX:56755000-56757000	Active TSS	Stomach Smooth Muscle	stomach
34	chrX:56755000-56757200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
35	chrX:56755000-56757200	Active TSS	iPS-18 Cell Line	embryonic stem cell
36	chrX:56755000-56757400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chrX:56755000-56757400	Active TSS	Brain Anterior Caudate	brain
38	chrX:56755000-56757600	Active TSS	HUES48 Cell Line	embryonic stem cell
39	chrX:56755000-56757600	Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chrX:56755000-56757600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chrX:56755000-56757600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chrX:56755000-56757600	Active TSS	HMEC	breast
43	chrX:56755000-56757800	Active TSS	HUES6 Cell Line	embryonic stem cell
44	chrX:56755000-56758200	Bivalent/Poised TSS	Fetal Brain Female	brain
45	chrX:56755000-56758600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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