Variant report

Variant	rs34348381
Chromosome Location	chr5:124467366-124467367
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10036304	0.96[ASN][1000 genomes]
rs10040497	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10050592	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10050742	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10051335	0.91[ASN][1000 genomes]
rs10068672	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10085148	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1008776	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1109910	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1109911	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1109912	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11241788	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11241789	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11741331	0.86[EUR][1000 genomes]
rs12189383	0.93[EUR][1000 genomes]
rs12520570	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13161894	0.85[EUR][1000 genomes]
rs13162105	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13162223	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13187207	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1550361	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1550364	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1550365	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17449514	0.83[ASN][1000 genomes]
rs17456443	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17456490	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17515092	0.96[ASN][1000 genomes]
rs2033842	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34519250	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35918516	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4590178	0.96[ASN][1000 genomes]
rs5016080	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5016083	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56065010	0.91[ASN][1000 genomes]
rs56171860	0.88[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs6595576	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6595577	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6595578	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6862170	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6865099	0.87[ASN][1000 genomes]
rs6865632	0.87[ASN][1000 genomes]
rs6869646	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6885185	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6886317	0.87[ASN][1000 genomes]
rs6888003	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6892666	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6895171	0.88[ASN][1000 genomes]
rs7448847	0.91[ASN][1000 genomes]
rs7721241	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7733868	0.87[ASN][1000 genomes]
rs7735615	0.96[ASN][1000 genomes]
rs893714	0.87[ASN][1000 genomes]
rs893715	0.88[ASN][1000 genomes]
rs893716	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs930417	0.91[ASN][1000 genomes]
rs953844	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9686650	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830475	chr5:124387292-124550256	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv599658	chr5:124459547-124513012	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	esv3441294	chr5:124465078-124467626	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124456200-124470000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr5:124456200-124470200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr5:124461400-124468200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:124465400-124470000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:124465400-124471000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr5:124465600-124468600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:124465600-124470000	Weak transcription	HUVEC	blood vessel
8	chr5:124465600-124470000	Weak transcription	NHDF-Ad	bronchial
9	chr5:124466200-124468600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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