Variant report

Variant	rs13025387
Chromosome Location	chr2:49431384-49431385
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11682910	0.84[ASN][1000 genomes]
rs11682979	0.86[ASN][1000 genomes]
rs11683030	0.91[ASN][1000 genomes]
rs11684334	0.92[ASN][1000 genomes]
rs11694147	0.86[ASN][1000 genomes]
rs11694212	0.86[ASN][1000 genomes]
rs11695504	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12465480	0.94[ASN][1000 genomes]
rs12466554	0.91[ASN][1000 genomes]
rs12469765	0.84[ASN][1000 genomes]
rs12473182	0.90[ASN][1000 genomes]
rs12473646	0.88[ASN][1000 genomes]
rs12474621	0.91[ASN][1000 genomes]
rs12477568	0.88[ASN][1000 genomes]
rs12478416	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12615919	0.92[ASN][1000 genomes]
rs13030816	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs34882825	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs35716340	0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4078370	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4330135	0.89[ASN][1000 genomes]
rs4337506	0.85[ASN][1000 genomes]
rs4603797	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4971701	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4971702	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4971715	0.87[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs4971718	0.88[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs4971728	0.88[ASN][1000 genomes]
rs4971729	0.91[ASN][1000 genomes]
rs6419619	0.87[ASN][1000 genomes]
rs6545101	0.88[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs6753537	0.86[ASN][1000 genomes]
rs7560929	0.87[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs7575144	0.91[ASN][1000 genomes]
rs7575146	0.90[ASN][1000 genomes]
rs7578571	0.88[ASN][1000 genomes]
rs7588963	0.88[ASN][1000 genomes]
rs7598097	0.89[ASN][1000 genomes]
rs9712256	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9973500	0.87[ASN][1000 genomes]
rs9973827	0.85[ASN][1000 genomes]
rs9973828	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002793	chr2:48771220-49466550	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1004965	chr2:48796170-49443587	Bivalent Enhancer Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv535684	chr2:48796170-49443587	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1008909	chr2:49281630-49571619	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
5	nsv993555	chr2:49299168-49781707	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv869321	chr2:49316909-49587401	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv999413	chr2:49324726-49477527	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv874011	chr2:49358655-49489333	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv874012	chr2:49359676-49489333	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1005336	chr2:49422587-49737964	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv535686	chr2:49422587-49737964	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv1006675	chr2:49422587-49737965	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv535687	chr2:49422587-49737965	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:49409800-49437200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:49431200-49432200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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