Variant report

Variant	rs543518308
Chromosome Location	chr14:55925447-55925448
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	STAT3	chr14:55925372-55926093	MCF10A-Er-Src	breast:	n/a	n/a
2	MAFK	chr14:55925426-55926023	Hela-S3	cervix:	n/a	n/a
3	PML	chr14:55925358-55926066	GM12878	blood:	n/a	n/a
4	ATF2	chr14:55925395-55925997	GM12878	blood:	n/a	n/a
5	CEBPB	chr14:55925393-55926056	GM12878	blood:	n/a	n/a
6	ATF2	chr14:55925406-55926072	GM12878	blood:	n/a	n/a
7	FOXM1	chr14:55925386-55926104	GM12878	blood:	n/a	n/a
8	GATA2	chr14:55924938-55926001	HUVEC	blood vessel:	n/a	n/a
9	STAT3	chr14:55925395-55926050	MCF10A-Er-Src	breast:	n/a	n/a
10	EP300	chr14:55925440-55926039	GM12878	blood:	n/a	chr14:55925493-55925507 chr14:55925488-55925502
11	FOS	chr14:55925399-55926283	MCF10A-Er-Src	breast:	n/a	n/a
12	STAT3	chr14:55925372-55926097	MCF10A-Er-Src	breast:	n/a	n/a
13	EP300	chr14:55925395-55925975	GM12878	blood:	n/a	chr14:55925493-55925507 chr14:55925488-55925502
14	FOS	chr14:55925436-55926230	MCF10A-Er-Src	breast:	n/a	n/a
15	BCL11A	chr14:55925432-55926028	GM12878	blood:	n/a	n/a
16	MEF2A	chr14:55925416-55925937	GM12878	blood:	n/a	n/a
17	MTA3	chr14:55925336-55926013	GM12878	blood:	n/a	n/a
18	NFIC	chr14:55925312-55926138	GM12878	blood:	n/a	n/a
19	IRF4	chr14:55925439-55926072	GM12878	blood:	n/a	n/a
20	RUNX3	chr14:55925327-55926062	GM12878	blood:	n/a	n/a
21	STAT3	chr14:55925408-55926136	MCF10A-Er-Src	breast:	n/a	n/a
22	MAX	chr14:55925389-55926213	A549	lung:	n/a	chr14:55926186-55926195
23	MTA3	chr14:55925442-55926096	GM12878	blood:	n/a	n/a
24	IKZF1	chr14:55925345-55926030	GM12878	blood:	n/a	n/a
25	NFIC	chr14:55925374-55926046	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:55924018..55926617-chr14:55931310..55932885,2	K562	blood:

Variant related genes	Relation type
TBPL2	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901958	chr14:55822095-56045411	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv901960	chr14:55853724-56085130	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers 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	29 gene(s)	inside rSNPs	diseases
3	nsv901961	chr14:55853724-56101879	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	nsv901962	chr14:55862956-56101879	Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv901963	chr14:55871452-56085130	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv901964	chr14:55871452-56101879	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription 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	29 gene(s)	inside rSNPs	diseases
7	nsv564874	chr14:55879685-56027815	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv1051564	chr14:55895610-56130788	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
9	nsv542103	chr14:55895610-56130788	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
10	nsv1047054	chr14:55922287-56035579	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv1051249	chr14:55923962-55961635	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	1 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	chr14:55921600-55925600	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr14:55921600-55925800	Weak transcription	HSMMtube	muscle
3	chr14:55921800-55925600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr14:55921800-55925600	Weak transcription	Right Atrium	heart
5	chr14:55921800-55925800	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr14:55921800-55925800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr14:55921800-55925800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr14:55921800-55930000	Weak transcription	NHLF	lung
9	chr14:55921800-55933800	Weak transcription	Gastric	stomach
10	chr14:55922000-55925800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr14:55922200-55929800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr14:55924000-55926200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr14:55924600-55926200	Enhancers	NHEK	skin
14	chr14:55925000-55925600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr14:55925000-55926200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr14:55925000-55926200	Enhancers	Muscle Satellite Cultured Cells	--
17	chr14:55925000-55926200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr14:55925000-55926200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr14:55925000-55926200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr14:55925000-55926200	Enhancers	GM12878-XiMat	blood
21	chr14:55925000-55926200	Enhancers	HMEC	breast
22	chr14:55925000-55926200	Enhancers	HSMM	muscle
23	chr14:55925000-55926200	Enhancers	NHDF-Ad	bronchial
24	chr14:55925000-55926400	Enhancers	HUVEC	blood vessel
25	chr14:55925200-55925800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr14:55925200-55926000	Enhancers	Stomach Mucosa	stomach
27	chr14:55925200-55926200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr14:55925200-55926200	Enhancers	A549	lung
29	chr14:55925400-55926000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr14:55925400-55926200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr14:55925400-55926200	Flanking Active TSS	Hela-S3	cervix
32	chr14:55925400-55926200	Enhancers	NH-A	brain
33	chr14:55925400-55926200	Enhancers	Osteobl	bone

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