Variant report

Variant	rs2765258
Chromosome Location	chr1:62754049-62754050
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10493320	1.00[CHB][hapmap];0.81[JPT][hapmap];0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11207957	0.86[ASN][1000 genomes]
rs12058486	1.00[CHB][hapmap];0.94[ASN][1000 genomes]
rs12063531	1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12065844	1.00[CHB][hapmap];0.89[JPT][hapmap];0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12078087	1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12079207	1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12082238	1.00[CHB][hapmap];0.90[JPT][hapmap];0.98[ASN][1000 genomes]
rs12085325	0.98[ASN][1000 genomes]
rs12718429	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12724349	1.00[CHB][hapmap];0.94[ASN][1000 genomes]
rs12760226	1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12760895	0.81[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2296518	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2477872	1.00[ASN][1000 genomes]
rs2666487	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2666488	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2666503	0.86[CEU][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2666506	0.85[CEU][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2666507	0.95[CEU][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2666508	0.95[CEU][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2765251	0.81[CEU][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2765261	0.85[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.98[ASN][1000 genomes]
rs2765263	0.81[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs34752481	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7516290	0.95[CEU][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7520614	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs765691	0.85[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs765692	0.85[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs912894	1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs912895	1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs912896	1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.94[ASN][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	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
4	nsv1013582	chr1:62723703-62910632	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62751600-62754200	Enhancers	Placenta	Placenta
2	chr1:62751600-62754800	Enhancers	Fetal Heart	heart
3	chr1:62751600-62755000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:62751600-62756200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:62751800-62754800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:62752400-62754400	Enhancers	Placenta Amnion	Placenta Amnion
7	chr1:62752600-62754600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr1:62752600-62755600	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr1:62753000-62754800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr1:62753000-62756400	Enhancers	HepG2	liver
11	chr1:62753200-62754400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
12	chr1:62753200-62760000	Weak transcription	Fetal Stomach	stomach
13	chr1:62753200-62761600	Weak transcription	Pancreas	Pancrea
14	chr1:62753200-62761600	Weak transcription	Right Atrium	heart
15	chr1:62753400-62754200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
16	chr1:62753400-62755000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:62753400-62755200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:62753600-62755200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:62753800-62754200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:62754000-62754200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr1:62754000-62754400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell

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