Variant report

Variant	rs73133217
Chromosome Location	chr5:92762422-92762423
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	TCF12	chr5:92762029-92762762	ECC-1	luminal epithelium:	n/a	chr5:92762071-92762081
2	KAP1	chr5:92762104-92762660	HEK293	kidney:	n/a	n/a
3	EP300	chr5:92762045-92762737	ECC-1	luminal epithelium:	n/a	n/a

Variant related genes	Relation type
NR2F1-AS1	TF binding region

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs11135388	0.91[EUR][1000 genomes]
rs11951859	0.92[EUR][1000 genomes]
rs11952115	0.89[EUR][1000 genomes]
rs11952600	0.90[EUR][1000 genomes]
rs11960608	0.89[EUR][1000 genomes]
rs12187239	0.89[AFR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12188716	0.93[ASN][1000 genomes]
rs12188845	0.90[EUR][1000 genomes]
rs12188905	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1370977	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1457101	0.91[EUR][1000 genomes]
rs17082127	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17082129	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17083145	0.92[EUR][1000 genomes]
rs17083155	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17083181	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17083191	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17083194	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17083198	0.88[AFR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17083200	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17083213	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17083228	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1824153	0.98[EUR][1000 genomes]
rs1844343	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2083227	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2344387	0.90[EUR][1000 genomes]
rs55861967	0.88[EUR][1000 genomes]
rs57165666	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57690257	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59360932	0.80[AFR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61324921	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61352323	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6556823	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6556824	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6556826	0.80[EUR][1000 genomes]
rs6866771	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6879816	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6880843	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6889857	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73133214	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73133226	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73133228	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73133239	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73133251	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73133254	0.88[EUR][1000 genomes]
rs73133258	0.90[EUR][1000 genomes]
rs73133261	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73133265	0.88[AFR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73133275	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73133278	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73133280	0.81[AFR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73133282	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73133283	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73133287	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73133289	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73133292	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73133301	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73135313	0.85[EUR][1000 genomes]
rs73772907	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7712899	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7715034	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7727107	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830402	chr5:92703901-92847345	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:92740000-92764400	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr5:92743600-92799200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:92747400-92769400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr5:92754000-92775600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr5:92758200-92777800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr5:92759000-92765000	Weak transcription	Fetal Brain Female	brain
7	chr5:92759000-92766000	Weak transcription	Fetal Stomach	stomach
8	chr5:92759200-92764800	Weak transcription	Brain Germinal Matrix	brain
9	chr5:92759200-92773800	Weak transcription	Ovary	ovary
10	chr5:92759400-92764600	Weak transcription	Fetal Brain Male	brain
11	chr5:92759400-92765800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr5:92759800-92763000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:92760200-92798000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:92760600-92767400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:92761200-92765200	Weak transcription	Brain Anterior Caudate	brain
16	chr5:92761200-92765800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:92761400-92762600	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr5:92761400-92764600	Weak transcription	Fetal Lung	lung
19	chr5:92761400-92769600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr5:92761400-92775000	Weak transcription	NHLF	lung
21	chr5:92761400-92778400	Weak transcription	Fetal Kidney	kidney
22	chr5:92761600-92762600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr5:92761600-92773800	Weak transcription	Brain Substantia Nigra	brain
24	chr5:92762000-92762600	Enhancers	Stomach Smooth Muscle	stomach
25	chr5:92762000-92763200	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr5:92762200-92762800	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr5:92762200-92763400	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr5:92762200-92763600	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr5:92762400-92762600	Enhancers	H9 Cell Line	embryonic stem cell
30	chr5:92762400-92762800	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr5:92762400-92762800	Enhancers	Colon Smooth Muscle	Colon
32	chr5:92762400-92763400	Enhancers	HUES6 Cell Line	embryonic stem cell

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