Variant report

Variant	rs62247278
Chromosome Location	chr3:22419138-22419139
allele	A/C
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	JUND	chr3:22418758-22419348	SK-N-SH	brain:	n/a	chr3:22419062-22419069 chr3:22419060-22419072 chr3:22419062-22419070 chr3:22419061-22419071 chr3:22419062-22419070
2	JUND	chr3:22418763-22419397	SK-N-SH	brain:	n/a	chr3:22419062-22419069 chr3:22419060-22419072 chr3:22419062-22419070 chr3:22419061-22419071 chr3:22419062-22419070
3	FOS	chr3:22418880-22419254	MCF10A-Er-Src	breast:	n/a	chr3:22419062-22419069 chr3:22419060-22419072 chr3:22419062-22419070 chr3:22419061-22419071 chr3:22419062-22419070
4	POLR2A	chr3:22418913-22419235	SK-N-SH	brain:	n/a	n/a
5	FOS	chr3:22418914-22419254	MCF10A-Er-Src	breast:	n/a	chr3:22419062-22419069 chr3:22419060-22419072 chr3:22419062-22419070 chr3:22419061-22419071 chr3:22419062-22419070
6	NFIC	chr3:22418916-22419458	SK-N-SH	brain:	n/a	n/a
7	TCF12	chr3:22418779-22419534	SK-N-SH	brain:	n/a	n/a
8	PBX3	chr3:22418800-22419453	SK-N-SH	brain:	n/a	n/a
9	PBX3	chr3:22418950-22419396	SK-N-SH	brain:	n/a	n/a
10	POLR2A	chr3:22418927-22419210	U87	brain:	n/a	n/a
11	FOS	chr3:22418894-22419231	MCF10A-Er-Src	breast:	n/a	chr3:22419062-22419069 chr3:22419060-22419072 chr3:22419062-22419070 chr3:22419061-22419071 chr3:22419062-22419070
12	FOS	chr3:22418894-22419280	MCF10A-Er-Src	breast:	n/a	chr3:22419062-22419069 chr3:22419060-22419072 chr3:22419062-22419070 chr3:22419061-22419071 chr3:22419062-22419070
13	GATA3	chr3:22418754-22419525	SK-N-SH	brain:	n/a	n/a
14	FOSL2	chr3:22418846-22419379	SK-N-SH	brain:	n/a	chr3:22419062-22419069 chr3:22419060-22419072 chr3:22419062-22419070 chr3:22419061-22419071 chr3:22419062-22419070
15	TCF12	chr3:22418729-22419477	SK-N-SH	brain:	n/a	n/a
16	EP300	chr3:22418924-22419270	SK-N-SH_RA	brain:	n/a	chr3:22419062-22419071 chr3:22419154-22419164
17	E2F4	chr3:22419036-22419309	MCF10A-Er-Src	breast:	n/a	n/a
18	MYC	chr3:22418950-22419262	MCF10A-Er-Src	breast:	n/a	chr3:22419062-22419071
19	GATA3	chr3:22418828-22419484	SK-N-SH	brain:	n/a	n/a
20	JUND	chr3:22418720-22419357	SK-N-SH	brain:	n/a	chr3:22419062-22419069 chr3:22419060-22419072 chr3:22419062-22419070 chr3:22419061-22419071 chr3:22419062-22419070
21	MYC	chr3:22418723-22419236	MCF10A-Er-Src	breast:	n/a	chr3:22419062-22419071

Variant related genes	Relation type
ZNF385D	TF binding region
HMGB1P5	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs62247342	1.00[AFR][1000 genomes]
rs62248859	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432404	chr3:22000296-22433396	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1003211	chr3:22244883-22584229	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv536520	chr3:22244883-22584229	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv428082	chr3:22397625-22539817	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr3:22418600-22419400	Enhancers	NH-A	brain
2	chr3:22418600-22419600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr3:22418600-22419600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr3:22419000-22419200	Enhancers	Pancreatic Islets	Pancreatic Islet

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