Variant report

Variant	rs28654478
Chromosome Location	chr8:10924933-10924934
allele	C/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	NR2F2	chr8:10924445-10924990	MCF-7	breast:	n/a	n/a
2	MAZ	chr8:10923879-10925327	IMR90	lung:	n/a	n/a
3	KAP1	chr8:10923986-10924933	HEK293	kidney:	n/a	n/a
4	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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:10911187..10913100-chr8:10924744..10926931,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254839	TF binding region

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10093125	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28591514	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28727448	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6993779	0.81[EUR][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:50 , 50 per page) page: 1

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	chr8:10924200-10925000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr8:10924200-10925000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr8:10924200-10925000	Bivalent/Poised TSS	A549	lung
21	chr8:10924200-10925000	Flanking Active TSS	NH-A	brain
22	chr8:10924200-10925000	Enhancers	NHLF	lung
23	chr8:10924200-10925000	Flanking Active TSS	Osteobl	bone
24	chr8:10924200-10925400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr8:10924200-10925600	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr8:10924200-10925600	Enhancers	HMEC	breast
27	chr8:10924200-10925800	Enhancers	H1 Cell Line	embryonic stem cell
28	chr8:10924200-10925800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr8:10924200-10926400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr8:10924400-10925000	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr8:10924400-10925000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr8:10924400-10925000	Active TSS	Brain Inferior Temporal Lobe	brain
33	chr8:10924400-10925000	Enhancers	Placenta Amnion	Placenta Amnion
34	chr8:10924400-10925000	Enhancers	NHDF-Ad	bronchial
35	chr8:10924400-10925000	Flanking Active TSS	NHEK	skin
36	chr8:10924400-10925400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr8:10924400-10925400	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr8:10924400-10925600	Enhancers	H9 Cell Line	embryonic stem cell
39	chr8:10924600-10925000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr8:10924600-10925000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
41	chr8:10924600-10925000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
42	chr8:10924600-10925200	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr8:10924600-10925400	Enhancers	HSMMtube	muscle
44	chr8:10924600-10926000	Enhancers	Muscle Satellite Cultured Cells	--
45	chr8:10924600-10926400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr8:10924600-10929400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr8:10924800-10925000	Bivalent Enhancer	Fetal Brain Male	brain
48	chr8:10924800-10925400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr8:10924800-10925600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr8:10924800-10931400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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