Variant report

Variant	rs16997565
Chromosome Location	chr21:28742659-28742660
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	FOS	chr21:28742455-28742933	HUVEC	blood vessel:	n/a	n/a
2	GATA2	chr21:28742435-28742888	HUVEC	blood vessel:	n/a	n/a

Variant related genes	Relation type
EIF4A1P1	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11908996	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11909025	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11909091	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11910396	1.00[AMR][1000 genomes]
rs11910835	1.00[AMR][1000 genomes]
rs11911965	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1452093	0.81[YRI][hapmap]
rs1452094	0.81[YRI][hapmap]
rs16980399	0.93[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16980453	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16997563	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2830869	0.81[YRI][hapmap]
rs2830872	0.81[YRI][hapmap]
rs4306780	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58245320	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61137573	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7275570	0.94[AFR][1000 genomes]
rs7280599	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7280962	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7281874	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73383398	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8133836	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8133867	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8133939	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8134381	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8134884	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067475	chr21:28238746-29046707	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv459229	chr21:28543456-29482488	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv587342	chr21:28543456-29482488	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv913666	chr21:28687650-28810976	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1061112	chr21:28738028-28775601	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv965979	chr21:28739398-28743541	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 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	chr21:28738000-28743400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr21:28739600-28743400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr21:28741200-28743200	Enhancers	Right Atrium	heart
4	chr21:28741200-28745600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr21:28741400-28744800	Enhancers	Dnd41	blood
6	chr21:28741600-28743200	Enhancers	Ovary	ovary
7	chr21:28741600-28744400	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr21:28741800-28745200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr21:28742000-28743600	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr21:28742200-28743200	Enhancers	H9 Cell Line	embryonic stem cell
11	chr21:28742200-28743400	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr21:28742200-28743400	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr21:28742200-28744400	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr21:28742200-28763600	Weak transcription	Left Ventricle	heart
15	chr21:28742400-28743000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr21:28742400-28745200	Enhancers	Fetal Heart	heart
17	chr21:28742400-28745800	Enhancers	Fetal Lung	lung
18	chr21:28742600-28743000	Enhancers	H1 Cell Line	embryonic stem cell
19	chr21:28742600-28743000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr21:28742600-28743000	Enhancers	Fetal Intestine Small	intestine
21	chr21:28742600-28743600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr21:28742600-28743600	Enhancers	Fetal Stomach	stomach
23	chr21:28742600-28745600	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr21:28742600-28745600	Enhancers	HSMMtube	muscle

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