Variant report

Variant	rs10416394
Chromosome Location	chr19:20814924-20814925
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10405703	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10410025	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10411762	0.81[AMR][1000 genomes]
rs10413210	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10413371	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10413851	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10414840	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10415236	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10419521	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10419579	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10420114	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10421251	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10423967	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10854032	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11085367	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11085368	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11085370	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11667375	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11880158	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs12975304	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35228442	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35237192	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35447331	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs35524365	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4641874	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4808254	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4808256	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4809078	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4809079	0.88[AMR][1000 genomes]
rs4809081	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4809083	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4809084	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7247393	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7252292	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7254057	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7254509	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7256231	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7259846	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73008338	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8100262	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8100360	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8100509	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8100596	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8103277	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8110124	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8112343	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9304969	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9304970	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9304972	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9304973	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9304974	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9917099	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9917105	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3319016	chr19:19917475-20819154	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
2	esv3319017	chr19:19917475-20819154	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer 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	56 gene(s)	inside rSNPs	diseases
3	esv3390957	chr19:19965887-20819154	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	53 gene(s)	inside rSNPs	diseases
4	nsv911325	chr19:20151257-21071548	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	49 gene(s)	inside rSNPs	diseases
5	nsv911332	chr19:20574295-20819154	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
6	nsv911333	chr19:20574295-20819154	ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
7	esv2758489	chr19:20574295-20845947	Strong transcription Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
8	esv2758749	chr19:20574295-20845947	ZNF genes & repeats Genic enhancers Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
9	nsv530804	chr19:20574295-21001349	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
10	nsv458390	chr19:20576399-20819154	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
11	nsv458391	chr19:20576399-20819154	ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
12	nsv578819	chr19:20576399-20819154	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:20808400-20816200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr19:20809800-20815400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr19:20809800-20815400	Weak transcription	Fetal Stomach	stomach
4	chr19:20809800-20816200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr19:20809800-20816200	Weak transcription	Ovary	ovary
6	chr19:20810400-20816200	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr19:20811600-20816800	Weak transcription	Fetal Heart	heart
8	chr19:20812400-20827200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr19:20813800-20816200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr19:20814600-20842200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr19:20814800-20816200	Active TSS	Adipose Nuclei	Adipose
12	chr19:20814800-20820200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell

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