Variant report

Variant	rs4818956
Chromosome Location	chr21:46106268-46106269
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11909180	0.98[ASN][1000 genomes]
rs12481809	0.81[ASN][1000 genomes]
rs12483730	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2243667	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2838626	0.85[EUR][1000 genomes]
rs2838630	0.86[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2838639	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2838645	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2838649	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2838654	1.00[JPT][hapmap]
rs28797484	1.00[ASN][1000 genomes]
rs4818962	0.80[ASN][1000 genomes]
rs55914221	0.81[ASN][1000 genomes]
rs56829302	0.92[ASN][1000 genomes]
rs60154040	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60327918	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60681728	0.98[ASN][1000 genomes]
rs7283084	0.86[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7283406	0.86[CHB][hapmap];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8132905	0.95[ASN][1000 genomes]
rs8133996	1.00[JPT][hapmap]
rs9637188	0.86[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9974365	0.81[ASN][1000 genomes]
rs9975249	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs9978932	1.00[JPT][hapmap]
rs9980087	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9981523	0.82[CHB][hapmap];1.00[ASN][1000 genomes]
rs9981573	0.88[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs9981618	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9982002	0.98[ASN][1000 genomes]
rs9984476	0.94[EUR][1000 genomes];0.98[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	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv913956	chr21:46096964-46279505	Enhancers Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv1062245	chr21:46096964-46332587	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription 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	51 gene(s)	inside rSNPs	diseases
4	nsv544478	chr21:46096964-46332587	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46094200-46106800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr21:46101000-46122200	Weak transcription	Right Atrium	heart
3	chr21:46105600-46107800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr21:46105600-46108200	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr21:46105800-46107400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr21:46105800-46107400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr21:46105800-46107600	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr21:46106000-46106600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr21:46106000-46107000	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr21:46106000-46107400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr21:46106000-46107800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr21:46106000-46109000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr21:46106200-46107200	Enhancers	Primary hematopoietic stem cells	blood
14	chr21:46106200-46107800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr21:46106200-46108000	Enhancers	H1 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links