Variant report

Variant	rs571441522
Chromosome Location	chr4:76480644-76480645
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	CTCF	chr4:76480640-76480790	GM12873	blood:	n/a	n/a
2	CTCF	chr4:76480640-76480790	GM12864	blood:	n/a	n/a
3	FOXA1	chr4:76480516-76480882	HepG2	liver:	n/a	chr4:76480708-76480720
4	CTCF	chr4:76480611-76480772	HepG2	liver:	n/a	n/a
5	CTCF	chr4:76480560-76480710	HAc	cerebellar:	n/a	n/a
6	CTCF	chr4:76480640-76480790	AG09309	skin:	n/a	n/a
7	CTCF	chr4:76480636-76480856	MCF-7	breast:	n/a	n/a
8	RCOR1	chr4:76480627-76480817	HepG2	liver:	n/a	n/a
9	CTCF	chr4:76480640-76480790	AG04449	skin:	n/a	n/a
10	FOXA1	chr4:76480573-76480788	T-47D	breast:	n/a	chr4:76480708-76480720
11	CTCF	chr4:76480640-76480790	HVMF	connective:	n/a	n/a
12	CTCF	chr4:76480640-76480790	HCPEpiC	choroid plexus:	n/a	n/a
13	CTCF	chr4:76480640-76480790	HRE	kidney:	n/a	n/a
14	CTCF	chr4:76480640-76480790	HPAF	blood vessel:	n/a	n/a
15	CTCF	chr4:76480580-76480730	GM12871	blood:	n/a	n/a
16	FOS	chr4:76480504-76480776	MCF10A-Er-Src	breast:	n/a	n/a
17	CTCF	chr4:76480640-76480790	K562	blood:	n/a	n/a
18	FOXA1	chr4:76480611-76480808	T-47D	breast:	n/a	chr4:76480708-76480720
19	FOXA1	chr4:76480562-76480831	HepG2	liver:	n/a	chr4:76480708-76480720
20	FOXA2	chr4:76480544-76480879	HepG2	liver:	n/a	chr4:76480708-76480720
21	PBX3	chr4:76480461-76481350	SK-N-SH	brain:	n/a	n/a
22	ARID3A	chr4:76480609-76480806	HepG2	liver:	n/a	n/a
23	FOXA1	chr4:76480592-76480825	HepG2	liver:	n/a	chr4:76480708-76480720
24	FOS	chr4:76480507-76481451	MCF10A-Er-Src	breast:	n/a	chr4:76481232-76481240 chr4:76481228-76481238 chr4:76481229-76481238 chr4:76481228-76481237
25	CTCF	chr4:76480640-76480790	AG04450	lung:	n/a	n/a
26	CTCF	chr4:76480640-76480790	GM12865	blood:	n/a	n/a
27	CTCF	chr4:76480600-76480750	HBMEC	blood vessel:	n/a	n/a
28	FOXA2	chr4:76480482-76481027	A549	lung:	n/a	chr4:76480708-76480720
29	JUND	chr4:76480445-76481585	SK-N-SH	brain:	n/a	chr4:76481232-76481240 chr4:76481228-76481238 chr4:76481229-76481238 chr4:76481227-76481238 chr4:76481228-76481237
30	CTCF	chr4:76480600-76480750	BJ	skin:	n/a	n/a
31	CTCF	chr4:76480620-76480770	MCF-7	breast:	n/a	n/a
32	CTCF	chr4:76480640-76480790	Caco-2	colon:	n/a	n/a
33	CTCF	chr4:76480584-76480858	K562	blood:	n/a	n/a
34	FOXA1	chr4:76480527-76480903	HepG2	liver:	n/a	chr4:76480708-76480720

Variant related genes	Relation type
C4orf26	TF binding region

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv594687	chr4:76154064-76502748	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv534570	chr4:76214619-76498362	ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS 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 target site	27 gene(s)	inside rSNPs	diseases
3	esv2525937	chr4:76479338-76480842	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76458400-76480800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr4:76468400-76480800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr4:76471800-76480800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr4:76474800-76480800	Weak transcription	HSMMtube	muscle
5	chr4:76480200-76480800	Enhancers	NHEK	skin
6	chr4:76480200-76481400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr4:76480400-76480800	Enhancers	HMEC	breast
8	chr4:76480400-76480800	Enhancers	NH-A	brain
9	chr4:76480400-76481000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr4:76480400-76481400	Enhancers	Placenta	Placenta
11	chr4:76480400-76481800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr4:76480400-76481800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr4:76480600-76480800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr4:76480600-76480800	Flanking Active TSS	Duodenum Mucosa	Duodenum
15	chr4:76480600-76480800	Enhancers	HepG2	liver
16	chr4:76480600-76481000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr4:76480600-76481000	Enhancers	A549	lung
18	chr4:76480600-76481000	Enhancers	HSMM	muscle
19	chr4:76480600-76481200	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr4:76480600-76481200	Enhancers	Osteobl	bone
21	chr4:76480600-76481400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr4:76480600-76481400	Enhancers	K562	blood
23	chr4:76480600-76481600	Enhancers	Primary B cells from peripheral blood	blood
24	chr4:76480600-76481600	Flanking Active TSS	GM12878-XiMat	blood
25	chr4:76480600-76481800	Enhancers	Placenta Amnion	Placenta Amnion
26	chr4:76480600-76482200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr4:76480600-76482400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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