Variant report

Variant	rs375842342
Chromosome Location	chr4:48483647-48483648
allele	G/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	GATA2	chr4:48483627-48484009	K562	blood:	n/a	chr4:48483836-48483848 chr4:48483838-48483845
2	GATA2	chr4:48483629-48483966	K562	blood:	n/a	chr4:48483836-48483848 chr4:48483838-48483845
3	ATF1	chr4:48483638-48483988	K562	blood:	n/a	n/a
4	CEBPD	chr4:48483530-48484088	K562	blood:	n/a	n/a
5	GATA1	chr4:48483478-48484325	K562	blood:	n/a	chr4:48483836-48483848 chr4:48483838-48483845
6	NR2F2	chr4:48483637-48483982	K562	blood:	n/a	n/a
7	CEBPB	chr4:48483480-48483916	K562	blood:	n/a	chr4:48483581-48483594 chr4:48483583-48483594
8	GATA1	chr4:48483534-48484249	PBDE	blood:	n/a	chr4:48483836-48483848 chr4:48483838-48483845
9	CEBPD	chr4:48483548-48484092	K562	blood:	n/a	n/a
10	CBX3	chr4:48483613-48484010	K562	blood:	n/a	n/a
11	JUND	chr4:48483623-48483980	K562	blood:	n/a	n/a
12	TEAD4	chr4:48483552-48484192	K562	blood:	n/a	n/a
13	MAX	chr4:48483635-48483981	K562	blood:	n/a	n/a
14	POLR2A	chr4:48483626-48483915	K562	blood:	n/a	n/a
15	RCOR1	chr4:48483622-48484021	K562	blood:	n/a	n/a
16	CHD2	chr4:48483568-48483726	K562	blood:	n/a	n/a
17	TEAD4	chr4:48483605-48484018	K562	blood:	n/a	n/a
18	MYC	chr4:48483573-48484233	K562	blood:	n/a	n/a
19	MYC	chr4:48483634-48484024	K562	blood:	n/a	n/a
20	TAL1	chr4:48483610-48484005	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:48478979..48481680-chr4:48482843..48484535,2	K562	blood:
2	chr4:48341909..48343469-chr4:48483589..48486077,2	K562	blood:
3	chr4:48474711..48478093-chr4:48481760..48484353,3	K562	blood:

Variant related genes	Relation type
SLC10A4	TF binding region
ENSG00000109171	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470034	chr4:48427773-48605628	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
2	nsv594121	chr4:48427773-48605628	Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
3	nsv1005268	chr4:48444307-48484389	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv537086	chr4:48444307-48484389	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv829925	chr4:48467693-48639342	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv879008	chr4:48473439-48496804	Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv879009	chr4:48476539-48494546	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	esv3421012	chr4:48483395-48487593	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48479800-48484200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr4:48480000-48484000	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr4:48483400-48484600	Enhancers	K562	blood
4	chr4:48483600-48484400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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