Variant report

Variant	rs4349542
Chromosome Location	chr3:144176717-144176718
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs11928775	0.92[AFR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12490144	0.88[ASN][1000 genomes]
rs12491851	0.92[AFR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12493075	0.92[AFR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12494918	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12495279	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13066453	0.89[ASN][1000 genomes]
rs1527238	0.89[ASN][1000 genomes]
rs1529752	0.92[AFR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1529753	0.92[AFR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2117004	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4337676	0.90[ASN][1000 genomes]
rs4398472	0.90[ASN][1000 genomes]
rs4408907	0.90[ASN][1000 genomes]
rs4479640	0.89[ASN][1000 genomes]
rs4544660	0.90[ASN][1000 genomes]
rs4568182	0.90[ASN][1000 genomes]
rs4594657	0.90[ASN][1000 genomes]
rs4681125	0.89[ASN][1000 genomes]
rs4681328	0.90[ASN][1000 genomes]
rs4681331	0.90[ASN][1000 genomes]
rs4681342	0.89[ASN][1000 genomes]
rs6440258	0.89[ASN][1000 genomes]
rs6763327	0.90[AFR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6763662	0.92[AFR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6783056	0.82[ASN][1000 genomes]
rs6791653	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6799623	0.89[ASN][1000 genomes]
rs6800761	0.90[ASN][1000 genomes]
rs7611785	0.87[ASN][1000 genomes]
rs7613977	0.89[ASN][1000 genomes]
rs7614082	0.84[ASN][1000 genomes]
rs7614253	0.82[ASN][1000 genomes]
rs7615146	0.89[ASN][1000 genomes]
rs7616429	0.89[ASN][1000 genomes]
rs7620611	0.89[ASN][1000 genomes]
rs7626294	0.89[ASN][1000 genomes]
rs7628103	0.90[ASN][1000 genomes]
rs7634647	0.89[ASN][1000 genomes]
rs7648433	0.82[AFR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7650699	0.90[ASN][1000 genomes]
rs7652161	0.92[AFR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7653820	0.89[ASN][1000 genomes]
rs9829827	0.82[AFR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9833354	0.89[ASN][1000 genomes]
rs9840395	0.81[CEU][hapmap];0.88[CHD][hapmap];0.91[GIH][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs9857163	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9857613	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9866115	0.92[AFR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9866442	0.85[JPT][hapmap]
rs9878902	0.81[CHB][hapmap];0.94[CHD][hapmap];0.87[GIH][hapmap];0.91[JPT][hapmap];0.80[TSI][hapmap];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532633	chr3:143802417-144440646	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1011685	chr3:143959237-144218424	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv536751	chr3:143959237-144218424	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv591928	chr3:144050897-144822081	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv591929	chr3:144123401-144188561	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv1012058	chr3:144139713-144183108	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv536752	chr3:144151900-144183108	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv591930	chr3:144152222-144180576	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:144174400-144176800	Enhancers	Fetal Heart	heart
2	chr3:144175200-144177000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr3:144176400-144177400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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