Variant report

Variant	rs538380556
Chromosome Location	chr7:102106167-102106168
allele	A/G
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	HCFC1	chr7:102104621-102106377	Hela-S3	cervix:	n/a	n/a
2	UBTF	chr7:102105068-102106187	K562	blood:	n/a	n/a
3	ZEB1	chr7:102106052-102106582	GM12878	blood:	n/a	n/a
4	NR2F2	chr7:102104616-102106574	K562	blood:	n/a	n/a
5	POLR2A	chr7:102105936-102106686	K562	blood:	n/a	n/a
6	MXI1	chr7:102104649-102106423	IMR90	lung:	n/a	n/a
7	STAT5A	chr7:102104606-102106462	GM12878	blood:	n/a	n/a
8	SIN3A	chr7:102104690-102106488	H1-hESC	embryonic stem cell:	n/a	n/a
9	PML	chr7:102104840-102106215	GM12878	blood:	n/a	n/a
10	MYC	chr7:102105032-102106376	A549	lung:	n/a	n/a
11	ELF1	chr7:102104747-102106301	GM12878	blood:	n/a	n/a
12	POLR2A	chr7:102106129-102106778	GM12878	blood:	n/a	n/a
13	SIN3AK20	chr7:102105036-102106220	SK-N-SH	brain:	n/a	n/a
14	MXI1	chr7:102103940-102106810	SK-N-SH	brain:	n/a	n/a
15	JUN	chr7:102104207-102106225	K562	blood:	n/a	chr7:102104486-102104495
16	PBX3	chr7:102106022-102106194	GM12878	blood:	n/a	n/a
17	NRF1	chr7:102104369-102106250	SK-N-SH	brain:	n/a	chr7:102105372-102105379 chr7:102105303-102105314
18	SIN3AK20	chr7:102104970-102106212	K562	blood:	n/a	n/a
19	MTA3	chr7:102105971-102106461	GM12878	blood:	n/a	n/a
20	POLR2A	chr7:102104611-102106578	K562	blood:	n/a	n/a
21	ZNF384	chr7:102105390-102106194	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:102035604..102038403-chr7:102105375..102107150,2	K562	blood:
2	chr7:102073875..102075484-chr7:102103725..102106348,2	MCF-7	breast:
3	chr7:102074336..102076927-chr7:102105688..102108273,2	K562	blood:

Variant related genes	Relation type
LRWD1	TF binding region
MIR5090	TF binding region
ALKBH4	TF binding region
ENSG00000239480	Chromatin interaction
ENSG00000128563	Chromatin interaction
ENSG00000160991	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1814780	chr7:101912320-102375950	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv1819566	chr7:101912320-102375950	Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	esv1822347	chr7:101912320-102375950	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	esv1825708	chr7:101912320-102375950	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	esv1842898	chr7:101912320-102375950	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
6	esv1847418	chr7:101912320-102375950	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
7	nsv427798	chr7:101912320-102375950	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
8	nsv428182	chr7:101912320-102375950	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
9	nsv1016563	chr7:101912320-102695860	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
10	nsv1028438	chr7:101912320-102704135	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
11	nsv1029079	chr7:101939998-102112371	Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active 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	32 gene(s)	inside rSNPs	diseases
12	esv1818954	chr7:101957513-102328097	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats 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 miRNA target site	47 gene(s)	inside rSNPs	diseases
13	esv1828190	chr7:101966669-102439077	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
14	esv1829377	chr7:101970299-102330884	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
15	nsv831083	chr7:101981005-102295869	Active TSS Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
16	esv1806297	chr7:101981544-102330884	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
17	esv1810415	chr7:101993063-102375950	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
18	esv1811751	chr7:101993063-102375950	Enhancers Genic enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
19	esv1829118	chr7:101993063-102375950	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
20	esv1833155	chr7:101993063-102375950	Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
21	esv1832541	chr7:102072448-102328097	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
22	nsv1025363	chr7:102072448-102471485	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
23	esv1803868	chr7:102080919-102109591	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
24	nsv888831	chr7:102082286-102274889	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
25	esv1817154	chr7:102083909-102329872	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
26	esv1847127	chr7:102085576-102329872	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
27	esv1822399	chr7:102085576-102335217	Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
28	nsv888832	chr7:102087202-102183897	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
29	esv1796247	chr7:102087750-102327899	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
30	nsv5879	chr7:102090768-102387803	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
31	nsv8192	chr7:102091052-102333199	Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
32	nsv607999	chr7:102091735-102113899	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	13 gene(s)	inside rSNPs	diseases
33	esv1833186	chr7:102094908-102337526	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
34	nsv888833	chr7:102101269-102334106	Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS 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 miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
35	nsv608000	chr7:102102343-102110094	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
36	nsv888834	chr7:102102343-102111796	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	13 gene(s)	inside rSNPs	diseases
37	nsv888835	chr7:102103293-102110890	Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	13 gene(s)	inside rSNPs	diseases
38	nsv608001	chr7:102103732-102110094	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
39	nsv608002	chr7:102103732-102110890	Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	13 gene(s)	inside rSNPs	diseases
40	esv1818955	chr7:102104752-102328097	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
41	nsv608003	chr7:102105566-102110938	Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102104000-102106200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:102104000-102106400	Flanking Active TSS	Primary hematopoietic stem cells	blood
3	chr7:102104200-102106200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:102104200-102106200	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr7:102104200-102106400	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr7:102104200-102106400	Active TSS	H9 Cell Line	embryonic stem cell
7	chr7:102104200-102106400	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr7:102104200-102106600	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr7:102104400-102106200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr7:102104400-102106200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:102104400-102106200	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr7:102104400-102106400	Active TSS	NHDF-Ad	bronchial
13	chr7:102104400-102106600	Active TSS	H1 Cell Line	embryonic stem cell
14	chr7:102104400-102106800	Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr7:102104600-102106200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr7:102104600-102106200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr7:102104600-102106200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr7:102104600-102106200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr7:102104600-102106200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr7:102104600-102106200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr7:102104600-102106200	Active TSS	Fetal Intestine Large	intestine
22	chr7:102104600-102106200	Active TSS	Gastric	stomach
23	chr7:102104600-102106200	Active TSS	Lung	lung
24	chr7:102104600-102106200	Active TSS	Stomach Mucosa	stomach
25	chr7:102104600-102106200	Active TSS	A549	lung
26	chr7:102104600-102106200	Active TSS	GM12878-XiMat	blood
27	chr7:102104600-102106200	Active TSS	HSMM	muscle
28	chr7:102104600-102106200	Active TSS	HSMMtube	muscle
29	chr7:102104600-102106200	Active TSS	NHLF	lung
30	chr7:102104600-102106400	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr7:102104600-102106800	Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr7:102104800-102106200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr7:102104800-102106200	Active TSS	Primary T helper naive cells from peripheral blood	blood
34	chr7:102104800-102106200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr7:102104800-102106200	Active TSS	Cortex derived primary cultured neurospheres	brain
36	chr7:102104800-102106200	Active TSS	Brain Angular Gyrus	brain
37	chr7:102104800-102106200	Active TSS	Brain Cingulate Gyrus	brain
38	chr7:102104800-102106200	Active TSS	Brain Inferior Temporal Lobe	brain
39	chr7:102104800-102106200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr7:102104800-102106200	Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr7:102104800-102106200	Active TSS	Esophagus	oesophagus
42	chr7:102104800-102106200	Active TSS	Fetal Brain Female	brain
43	chr7:102104800-102106200	Active TSS	Fetal Lung	lung
44	chr7:102104800-102106200	Active TSS	Left Ventricle	heart
45	chr7:102104800-102106200	Active TSS	Pancreas	Pancrea
46	chr7:102104800-102106200	Active TSS	Psoas Muscle	Psoas
47	chr7:102104800-102106200	Active TSS	Rectal Smooth Muscle	rectum
48	chr7:102104800-102106200	Active TSS	Right Ventricle	heart
49	chr7:102104800-102106200	Active TSS	Small Intestine	intestine
50	chr7:102104800-102106200	Active TSS	Thymus	Thymus

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