Variant report

Variant	rs2003929
Chromosome Location	chr5:5026290-5026291
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]
rs10042432	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11134088	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11949438	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11955765	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11955794	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12659168	0.82[CEU][hapmap]
rs2003930	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs249450	0.86[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs249453	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs249467	0.80[ASN][1000 genomes]
rs249473	0.83[ASN][1000 genomes]
rs2561741	0.80[ASN][1000 genomes]
rs35972265	0.87[ASN][1000 genomes]
rs3843476	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs458084	0.84[ASN][1000 genomes]
rs459126	0.98[ASN][1000 genomes]
rs4620002	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs465871	0.98[ASN][1000 genomes]
rs466185	0.87[ASN][1000 genomes]
rs4701651	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6555326	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6864834	0.96[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap]
rs6874575	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6878673	0.85[CEU][hapmap];0.81[CHB][hapmap];0.88[JPT][hapmap]
rs6896834	0.87[ASN][1000 genomes]
rs7704552	0.83[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	nsv1021653	chr5:4932992-5201887	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv2757980	chr5:4980876-5184615	Enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	esv2759318	chr5:4980876-5184615	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv1024784	chr5:4980979-5391231	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv880436	chr5:4982643-5038540	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv830194	chr5:5002459-5187667	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv968868	chr5:5024532-5032779	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:5025400-5026400	Active TSS	K562	blood
2	chr5:5025600-5026400	Active TSS	A549	lung
3	chr5:5025600-5026600	Active TSS	HSMM	muscle
4	chr5:5025600-5026800	Flanking Active TSS	Dnd41	blood
5	chr5:5025600-5027000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:5025600-5027000	Enhancers	Spleen	Spleen
7	chr5:5025800-5026400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
8	chr5:5025800-5026600	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr5:5025800-5026600	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr5:5025800-5026800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr5:5026000-5026600	Active TSS	HepG2	liver
12	chr5:5026200-5026400	Flanking Active TSS	Hela-S3	cervix
13	chr5:5026200-5026600	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr5:5026200-5026600	Enhancers	Placenta	Placenta
15	chr5:5026200-5026800	Enhancers	H1 Cell Line	embryonic stem cell

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