Variant report

Variant	rs1431629
Chromosome Location	chr8:52272383-52272384
allele	A/C
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:54)

rs_ID	r²[population]
rs1346954	0.81[EUR][1000 genomes]
rs1367817	0.81[AFR][1000 genomes]
rs1431621	0.94[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1431622	0.91[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1431623	0.93[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1431624	0.93[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1431625	0.93[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs1431626	0.81[EUR][1000 genomes]
rs1431627	0.84[EUR][1000 genomes]
rs1431628	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1473240	0.90[AFR][1000 genomes]
rs1560508	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs1560509	0.93[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs1560510	0.93[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs17261657	0.83[EUR][1000 genomes]
rs1991691	0.96[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs1991692	0.93[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs1991693	0.93[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2915464	0.83[EUR][1000 genomes]
rs2915467	0.92[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2915468	0.93[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2915469	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2915470	0.93[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2915471	0.93[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2915472	0.93[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2915473	0.93[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2915474	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2915475	0.81[EUR][1000 genomes]
rs2915476	0.93[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2915477	0.93[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2915478	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2915480	0.93[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2915481	0.93[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2915482	0.91[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2915483	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2915484	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2915486	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2915487	0.84[EUR][1000 genomes]
rs2915488	0.84[EUR][1000 genomes]
rs2976985	0.80[EUR][1000 genomes]
rs2976986	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2976987	0.85[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs2976988	0.93[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2976989	0.93[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2976990	0.93[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2976991	0.93[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2976992	0.93[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2976993	0.84[EUR][1000 genomes]
rs2976994	0.84[EUR][1000 genomes]
rs3097703	0.95[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs3097704	0.81[EUR][1000 genomes]
rs3097705	0.81[AFR][1000 genomes]
rs3115784	0.91[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs969257	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932026	chr8:51858658-52758574	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv948338	chr8:52060314-52368754	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv890895	chr8:52190571-52615191	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv817615	chr8:52252405-53023384	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	esv3421142	chr8:52270899-52275097	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52262200-52275600	Weak transcription	Right Atrium	heart
2	chr8:52264200-52284200	Weak transcription	Right Ventricle	heart
3	chr8:52270000-52273200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:52270000-52275600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:52271600-52276200	Weak transcription	Aorta	Aorta
6	chr8:52271800-52284200	Weak transcription	Left Ventricle	heart
7	chr8:52272000-52272800	Weak transcription	Fetal Lung	lung

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