Variant report

Variant	rs12745952
Chromosome Location	chr1:62670442-62670443
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12725684	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12727452	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12728092	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12729017	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12738720	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12740634	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12742559	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12743112	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12747871	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12753338	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12755711	0.85[EUR][1000 genomes]
rs12760006	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2886644	0.86[EUR][1000 genomes]
rs34637535	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4381221	0.91[EUR][1000 genomes]
rs7518470	0.94[AMR][1000 genomes];0.98[EUR][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	nsv1004446	chr1:62394631-62813533	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
2	nsv534984	chr1:62394631-62813533	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
3	nsv870842	chr1:62644118-62679202	Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1009398	chr1:62656660-62780644	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62661000-62675600	Weak transcription	Right Atrium	heart
2	chr1:62664000-62673000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr1:62664800-62677800	Weak transcription	Placenta	Placenta
4	chr1:62665200-62672400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr1:62666000-62695400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:62666800-62672000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
7	chr1:62667000-62672400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
8	chr1:62667000-62674200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:62667400-62676200	Strong transcription	Placenta Amnion	Placenta Amnion
10	chr1:62667600-62672800	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr1:62668200-62672200	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr1:62668400-62671400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
13	chr1:62668400-62677200	Strong transcription	H9 Cell Line	embryonic stem cell
14	chr1:62668600-62670600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:62668800-62670600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:62669000-62674600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:62669000-62675600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr1:62669400-62673800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr1:62669600-62670800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:62669600-62671800	Genic enhancers	H1 Cell Line	embryonic stem cell
21	chr1:62669800-62670600	Strong transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr1:62670200-62670600	Genic enhancers	HUES48 Cell Line	embryonic stem cell
23	chr1:62670200-62670600	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr1:62670200-62670600	ZNF genes & repeats	Fetal Lung	lung
25	chr1:62670200-62670800	ZNF genes & repeats	Fetal Stomach	stomach
26	chr1:62670400-62670600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr1:62670400-62671600	ZNF genes & repeats	Fetal Intestine Small	intestine
28	chr1:62670400-62671800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:62670400-62671800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr1:62670400-62677200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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