Variant report

Variant	rs4738646
Chromosome Location	chr8:54624299-54624300
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs1031979	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1031980	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10435587	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11994467	0.95[ASN][1000 genomes]
rs11996300	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12056486	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12056719	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12234972	0.90[ASN][1000 genomes]
rs13276766	0.92[ASN][1000 genomes]
rs1552148	0.90[ASN][1000 genomes]
rs16919507	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs16919508	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16919522	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16919534	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16919537	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16919541	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16919563	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs16919571	0.89[ASN][1000 genomes]
rs16919573	0.90[ASN][1000 genomes]
rs1872063	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1905061	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2128150	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2170444	0.90[ASN][1000 genomes]
rs2376011	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3735831	0.90[ASN][1000 genomes]
rs3757954	0.95[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs41321146	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4236945	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4737192	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4737518	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4737554	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4737558	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4737764	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4737765	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4737821	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4738470	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4738701	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4738884	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4738916	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55682919	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55876329	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs55964335	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs56818292	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56973376	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57550901	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs58473841	0.92[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs58558817	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58970885	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61070518	0.95[ASN][1000 genomes]
rs6984257	0.89[ASN][1000 genomes]
rs6986372	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6987427	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6988009	0.92[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6988082	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6988812	0.90[ASN][1000 genomes]
rs6994851	0.81[EUR][1000 genomes]
rs6997003	0.90[ASN][1000 genomes]
rs6997127	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6999454	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7005696	0.81[EUR][1000 genomes]
rs7006934	0.82[EUR][1000 genomes]
rs7009705	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7018162	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73587624	0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs73587627	0.92[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs73682549	0.88[EUR][1000 genomes]
rs73682551	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73682552	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73682555	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73682568	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73682570	0.92[ASN][1000 genomes]
rs7387704	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7843701	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs900163	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs958268	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9643480	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9643819	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9643820	0.84[AMR][1000 genomes];0.90[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	esv2758159	chr8:54474589-54737473	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv2759616	chr8:54474589-54737473	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv890920	chr8:54559770-54626539	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54605800-54626800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr8:54613600-54629800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:54613600-54634800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:54620800-54636200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:54620800-54636200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:54621000-54629000	Weak transcription	Gastric	stomach
7	chr8:54621400-54643600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:54622200-54632800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr8:54622400-54624800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr8:54622400-54626400	Weak transcription	Primary B cells from peripheral blood	blood
11	chr8:54622600-54624400	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr8:54623000-54624800	Weak transcription	Fetal Heart	heart
13	chr8:54623400-54624400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr8:54623800-54624600	Weak transcription	Aorta	Aorta
15	chr8:54624000-54624600	Enhancers	Brain Hippocampus Middle	brain
16	chr8:54624000-54626600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr8:54624200-54624600	Weak transcription	Right Atrium	heart
18	chr8:54624200-54625600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr8:54624200-54635800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr8:54624200-54640600	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr8:54624200-54643600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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