Variant report

Variant	rs930813
Chromosome Location	chr3:93978062-93978063
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs12495822	0.81[EUR][1000 genomes]
rs13061054	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1454686	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1492020	0.81[EUR][1000 genomes]
rs1580099	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1584922	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1584927	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1586828	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1598218	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1598243	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1609720	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1993325	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2034768	0.83[EUR][1000 genomes]
rs2198621	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3887491	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3912841	0.81[EUR][1000 genomes]
rs4292230	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4611824	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4857071	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4857338	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4857339	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4857340	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6439650	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6439764	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6764926	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6779996	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6800536	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6802421	0.82[EUR][1000 genomes]
rs7621230	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7640233	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7649884	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9289735	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9815406	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9819555	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9825317	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9841258	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9841438	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9847884	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9868186	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9878554	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869241	chr3:93527675-94504491	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv998173	chr3:93575084-94427403	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv536644	chr3:93575084-94427403	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1008711	chr3:93575284-94427264	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv536646	chr3:93575284-94427264	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv491829	chr3:93575285-94427263	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv1013107	chr3:93654100-94102212	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
8	nsv536648	chr3:93654100-94102212	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv1004176	chr3:93654100-94502551	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
10	nsv877162	chr3:93779664-94278078	Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv877163	chr3:93795972-94047775	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:93971600-93979200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr3:93976200-93978400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr3:93976600-93979200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr3:93977400-93978600	Enhancers	HMEC	breast
5	chr3:93977400-93979000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr3:93977600-93978200	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr3:93977800-93979000	Weak transcription	Fetal Lung	lung
8	chr3:93977800-93979200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:93978000-93978200	Enhancers	Fetal Stomach	stomach
10	chr3:93978000-93978200	Bivalent Enhancer	HSMMtube	muscle

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