Variant report

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1026418	0.93[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1379111	0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs1379113	0.83[ASN][1000 genomes]
rs1563516	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16878315	0.83[ASN][1000 genomes]
rs1870012	0.81[ASN][1000 genomes]
rs1870013	0.83[ASN][1000 genomes]
rs2045355	0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2061254	0.90[AFR][1000 genomes]
rs2124751	0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2441052	0.87[AFR][1000 genomes]
rs286150	0.84[AFR][1000 genomes]
rs286151	0.84[AFR][1000 genomes]
rs286152	0.90[AFR][1000 genomes]
rs34414908	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34915115	0.83[ASN][1000 genomes]
rs61752571	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6872509	0.82[AFR][1000 genomes]
rs7702459	0.83[ASN][1000 genomes]
rs7706896	0.81[ASN][1000 genomes]
rs7708849	0.83[ASN][1000 genomes]
rs7712043	0.83[ASN][1000 genomes]
rs7719525	0.83[ASN][1000 genomes]
rs897671	0.83[ASN][1000 genomes]
rs897673	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv598288	chr5:59627555-60003460	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv492277	chr5:59905195-60180834	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv968916	chr5:59944877-59962647	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv3397636	chr5:59949095-59953693	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59926400-59967800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:59929400-59954600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:59933400-59965200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr5:59933600-59981000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr5:59936600-59961400	Weak transcription	Thymus	Thymus
6	chr5:59936800-59961800	Weak transcription	Fetal Thymus	thymus
7	chr5:59942800-59961600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr5:59943400-59952400	Weak transcription	Placenta	Placenta
9	chr5:59943400-59977000	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr5:59943800-59952600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr5:59944400-59952400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr5:59945000-59961800	Weak transcription	HepG2	liver
13	chr5:59946400-59952400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:59951200-59953200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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