Variant report

Variant	rs228147
Chromosome Location	chr6:55642937-55642938
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1998301	0.83[ASN][1000 genomes]
rs2065024	0.89[ASN][1000 genomes]
rs2145902	0.82[ASN][1000 genomes]
rs2208601	0.89[ASN][1000 genomes]
rs2208605	0.83[ASN][1000 genomes]
rs228136	0.86[CHB][hapmap];0.83[JPT][hapmap];0.89[ASN][1000 genomes]
rs228138	0.89[ASN][1000 genomes]
rs228144	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs228145	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs228150	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2475248	0.83[ASN][1000 genomes]
rs2475249	0.83[ASN][1000 genomes]
rs2475251	0.83[ASN][1000 genomes]
rs2498526	0.83[ASN][1000 genomes]
rs2498527	0.83[ASN][1000 genomes]
rs2498528	0.83[ASN][1000 genomes]
rs2498531	0.83[ASN][1000 genomes]
rs3798849	0.93[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs6901502	0.83[ASN][1000 genomes]
rs6908699	0.89[ASN][1000 genomes]
rs7743943	0.85[ASN][1000 genomes]
rs7752893	0.89[ASN][1000 genomes]
rs9357877	0.83[ASN][1000 genomes]
rs9357879	0.89[ASN][1000 genomes]
rs9370455	0.83[ASN][1000 genomes]
rs9370467	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034037	chr6:55222409-56069600	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv1026411	chr6:55372845-55653498	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv885909	chr6:55539010-55674338	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1019228	chr6:55608688-55653498	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv2752670	chr6:55614978-55781605	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv885910	chr6:55628283-55684300	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv603164	chr6:55631762-55674338	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:55618200-55672400	Weak transcription	Placenta	Placenta
2	chr6:55625400-55646600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:55639000-55646800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr6:55640000-55647200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr6:55641000-55653200	Weak transcription	Fetal Heart	heart
6	chr6:55641800-55644000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr6:55642000-55643200	Enhancers	Muscle Satellite Cultured Cells	--
8	chr6:55642600-55643000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr6:55642600-55643000	Enhancers	Fetal Lung	lung
10	chr6:55642600-55643200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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