Variant report

Variant	rs28727448
Chromosome Location	chr8:10924698-10924699
allele	C/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	MYC	chr8:10924540-10924816	MCF10A-Er-Src	breast:	n/a	n/a
2	ZNF263	chr8:10924370-10924930	HEK293-T-REx	kidney:	n/a	chr8:10924705-10924714 chr8:10924702-10924711
3	FOSL2	chr8:10924502-10924892	MCF-7	breast:	n/a	chr8:10924684-10924696 chr8:10924686-10924694 chr8:10924685-10924695 chr8:10924687-10924694 chr8:10924685-10924695 chr8:10924686-10924694
4	FOS	chr8:10924532-10924840	MCF10A-Er-Src	breast:	n/a	chr8:10924684-10924696 chr8:10924686-10924694 chr8:10924685-10924695 chr8:10924687-10924694 chr8:10924685-10924695 chr8:10924686-10924694
5	NR2F2	chr8:10924445-10924990	MCF-7	breast:	n/a	n/a
6	CREB1	chr8:10924558-10924791	A549	lung:	n/a	n/a
7	MYC	chr8:10924575-10924816	MCF10A-Er-Src	breast:	n/a	n/a
8	ATF1	chr8:10924499-10924785	K562	blood:	n/a	n/a
9	ZNF143	chr8:10924505-10924705	H1-hESC	embryonic stem cell:	n/a	n/a
10	BCL3	chr8:10924509-10924819	GM12878	blood:	n/a	chr8:10924686-10924695
11	POLR2A	chr8:10924354-10924827	Gliobla	brain:	n/a	n/a
12	JUND	chr8:10924580-10924756	H1-hESC	embryonic stem cell:	n/a	chr8:10924684-10924696 chr8:10924686-10924694 chr8:10924685-10924695 chr8:10924687-10924694 chr8:10924685-10924695 chr8:10924686-10924694
13	MAZ	chr8:10923879-10925327	IMR90	lung:	n/a	n/a
14	CREB1	chr8:10924390-10924908	H1-hESC	embryonic stem cell:	n/a	n/a
15	FOSL1	chr8:10924554-10924788	K562	blood:	n/a	chr8:10924684-10924696 chr8:10924686-10924694 chr8:10924685-10924695 chr8:10924687-10924694 chr8:10924684-10924695 chr8:10924685-10924695 chr8:10924686-10924694
16	MAZ	chr8:10924597-10924799	K562	blood:	n/a	n/a
17	TBP	chr8:10924580-10924704	H1-hESC	embryonic stem cell:	n/a	n/a
18	KAP1	chr8:10923986-10924933	HEK293	kidney:	n/a	n/a
19	MAFK	chr8:10924025-10924845	IMR90	lung:	n/a	n/a
20	BACH1	chr8:10924512-10924775	H1-hESC	embryonic stem cell:	n/a	n/a
21	JUN	chr8:10924505-10924948	K562	blood:	n/a	chr8:10924684-10924696 chr8:10924686-10924694 chr8:10924685-10924695 chr8:10924687-10924694 chr8:10924685-10924695 chr8:10924686-10924694
22	CTCF	chr8:10924600-10924750	AG04449	skin:	n/a	chr8:10924729-10924738
23	JUN	chr8:10924508-10924708	H1-hESC	embryonic stem cell:	n/a	chr8:10924684-10924696 chr8:10924686-10924694 chr8:10924685-10924695 chr8:10924687-10924694 chr8:10924685-10924695 chr8:10924686-10924694
24	RAD21	chr8:10924512-10924884	IMR90	lung:	n/a	chr8:10924750-10924764
25	FOS	chr8:10924422-10924857	MCF10A-Er-Src	breast:	n/a	chr8:10924684-10924696 chr8:10924686-10924694 chr8:10924685-10924695 chr8:10924687-10924694 chr8:10924685-10924695 chr8:10924686-10924694
26	FOS	chr8:10924499-10924869	MCF10A-Er-Src	breast:	n/a	chr8:10924684-10924696 chr8:10924686-10924694 chr8:10924685-10924695 chr8:10924687-10924694 chr8:10924685-10924695 chr8:10924686-10924694
27	FOS	chr8:10924503-10924875	MCF10A-Er-Src	breast:	n/a	chr8:10924684-10924696 chr8:10924686-10924694 chr8:10924685-10924695 chr8:10924687-10924694 chr8:10924685-10924695 chr8:10924686-10924694
28	CTCF	chr8:10924680-10924830	NHEK	skin:	n/a	chr8:10924729-10924738
29	JUND	chr8:10924501-10924819	H1-hESC	embryonic stem cell:	n/a	chr8:10924684-10924696 chr8:10924686-10924694 chr8:10924685-10924695 chr8:10924687-10924694 chr8:10924685-10924695 chr8:10924686-10924694
30	JUND	chr8:10924521-10924834	K562	blood:	n/a	chr8:10924684-10924696 chr8:10924686-10924694 chr8:10924685-10924695 chr8:10924687-10924694 chr8:10924685-10924695 chr8:10924686-10924694

Variant related genes	Relation type
ENSG00000254839	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2409688	0.82[EUR][1000 genomes]
rs28591514	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28654478	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10917000-10926000	Weak transcription	Gastric	stomach
2	chr8:10918000-10925000	Weak transcription	Brain Anterior Caudate	brain
3	chr8:10922000-10929600	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr8:10922800-10926200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:10922800-10926200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr8:10923000-10925000	Enhancers	Fetal Heart	heart
7	chr8:10923200-10925000	Flanking Active TSS	HSMM	muscle
8	chr8:10923400-10925000	Enhancers	Right Atrium	heart
9	chr8:10923600-10925600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr8:10923600-10925600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chr8:10923600-10926000	Enhancers	Brain Angular Gyrus	brain
12	chr8:10923800-10925000	Bivalent Enhancer	Left Ventricle	heart
13	chr8:10923800-10925400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr8:10923800-10925400	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr8:10923800-10927800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr8:10924000-10925000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr8:10924000-10925000	Bivalent Enhancer	Fetal Muscle Leg	muscle
18	chr8:10924200-10924800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
19	chr8:10924200-10924800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr8:10924200-10925000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr8:10924200-10925000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr8:10924200-10925000	Bivalent/Poised TSS	A549	lung
23	chr8:10924200-10925000	Flanking Active TSS	NH-A	brain
24	chr8:10924200-10925000	Enhancers	NHLF	lung
25	chr8:10924200-10925000	Flanking Active TSS	Osteobl	bone
26	chr8:10924200-10925400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr8:10924200-10925600	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr8:10924200-10925600	Enhancers	HMEC	breast
29	chr8:10924200-10925800	Enhancers	H1 Cell Line	embryonic stem cell
30	chr8:10924200-10925800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr8:10924200-10926400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr8:10924400-10924800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:10924400-10924800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr8:10924400-10924800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr8:10924400-10924800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr8:10924400-10924800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr8:10924400-10925000	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr8:10924400-10925000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr8:10924400-10925000	Active TSS	Brain Inferior Temporal Lobe	brain
40	chr8:10924400-10925000	Enhancers	Placenta Amnion	Placenta Amnion
41	chr8:10924400-10925000	Enhancers	NHDF-Ad	bronchial
42	chr8:10924400-10925000	Flanking Active TSS	NHEK	skin
43	chr8:10924400-10925400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
44	chr8:10924400-10925400	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr8:10924400-10925600	Enhancers	H9 Cell Line	embryonic stem cell
46	chr8:10924600-10924800	Bivalent Enhancer	Fetal Brain Female	brain
47	chr8:10924600-10924800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
48	chr8:10924600-10925000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
49	chr8:10924600-10925000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
50	chr8:10924600-10925000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland

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