Variant report

Variant	rs73305623
Chromosome Location	chr8:92261413-92261414
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	ATF1	chr8:92261317-92261602	K562	blood:	n/a	n/a
2	STAT3	chr8:92261313-92261501	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr8:92261317-92261553	MCF10A-Er-Src	breast:	n/a	n/a
4	MYC	chr8:92261330-92261572	MCF10A-Er-Src	breast:	n/a	n/a
5	STAT3	chr8:92261203-92261572	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr8:92261117-92261705	SK-N-MC	brain:	n/a	n/a
7	NFIC	chr8:92261130-92262854	ECC-1	luminal epithelium:	n/a	chr8:92261484-92261500 chr8:92262530-92262547 chr8:92261483-92261500
8	NFIC	chr8:92261207-92262209	ECC-1	luminal epithelium:	n/a	chr8:92261484-92261500 chr8:92261483-92261500
9	FOXP2	chr8:92261269-92261583	SK-N-MC	brain:	n/a	n/a
10	FOS	chr8:92261310-92261617	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
SLC26A7	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10104677	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12335005	1.00[AMR][1000 genomes]
rs28498511	1.00[AMR][1000 genomes]
rs73305606	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7826163	1.00[AMR][1000 genomes]
rs7833987	0.93[AFR][1000 genomes];1.00[AMR][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	nsv1028628	chr8:91680968-92418954	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv539672	chr8:91680968-92418954	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv2758623	chr8:91974499-92273724	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	esv2759629	chr8:91974499-92273724	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers 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	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:92260400-92262800	Enhancers	Fetal Lung	lung
2	chr8:92260600-92261800	Enhancers	Fetal Brain Male	brain
3	chr8:92260600-92262200	Enhancers	Rectal Smooth Muscle	rectum
4	chr8:92260800-92262000	Enhancers	Colon Smooth Muscle	Colon
5	chr8:92260800-92263000	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr8:92261000-92261600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:92261000-92261800	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr8:92261000-92261800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr8:92261000-92262000	Enhancers	Fetal Stomach	stomach
10	chr8:92261000-92262200	Enhancers	Adipose Nuclei	Adipose
11	chr8:92261000-92262400	Enhancers	Fetal Heart	heart
12	chr8:92261200-92261600	Enhancers	NH-A	brain
13	chr8:92261200-92261800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr8:92261200-92261800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr8:92261200-92262000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr8:92261200-92262000	Enhancers	Fetal Brain Female	brain
17	chr8:92261400-92261600	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr8:92261400-92261800	Flanking Active TSS	Brain Germinal Matrix	brain
19	chr8:92261400-92261800	Enhancers	NHEK	skin
20	chr8:92261400-92262000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr8:92261400-92262000	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr8:92261400-92262000	Enhancers	Right Ventricle	heart
23	chr8:92261400-92262200	Enhancers	Ovary	ovary
24	chr8:92261400-92263000	Flanking Active TSS	Fetal Kidney	kidney

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