Variant report

Variant	rs1748377
Chromosome Location	chr1:158170197-158170198
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA1	chr1:158170143-158170874	PBDE	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000229914	TF binding region

Extended variants
information (count: 132 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:125)

rs_ID	r²[population]
rs11264929	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11264930	0.81[ASN][1000 genomes]
rs12040592	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12726365	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1622565	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1622690	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1633135	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1633136	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1633137	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1633138	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1633141	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1633142	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1633143	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1633158	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1633159	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1633160	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1633161	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1690782	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1690783	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1748378	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1748379	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1748380	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1748381	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1748382	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1748383	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1748386	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1748387	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1748395	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2518477	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs3018315	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs33998633	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs34261126	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs34768799	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs35043390	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs35200730	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs35717739	0.99[ASN][1000 genomes]
rs35860011	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs36120073	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs372403	0.88[ASN][1000 genomes]
rs374513	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs374686	0.97[ASN][1000 genomes]
rs379522	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs380015	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs380314	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs380382	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs383688	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs383819	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs384378	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs384414	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs392249	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs392333	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs394591	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs394823	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs395614	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs399687	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs401904	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs402135	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs402699	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs404278	0.90[ASN][1000 genomes]
rs406361	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs406558	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs407309	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs410919	0.88[ASN][1000 genomes]
rs411088	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs411395	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs412713	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs413557	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs420074	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs421484	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs421719	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs422617	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs423405	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs427275	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs429201	0.92[ASN][1000 genomes]
rs429379	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs432627	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs434232	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs434570	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs435349	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs437721	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs440862	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs440955	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs442076	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs442575	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs442713	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs449838	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs454825	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs583775	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs584126	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs590018	0.97[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs592815	0.82[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs594364	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs594840	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs607550	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs607948	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs607982	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs608279	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs611532	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs620699	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs621880	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs622707	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs651780	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs652269	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs652786	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6661098	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6677683	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6684696	0.91[ASN][1000 genomes]
rs6690078	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs670766	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs671710	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs690734	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs690837	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs690984	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs691174	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs691175	0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs691240	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs691306	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs691314	0.98[ASN][1000 genomes]
rs691318	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs691368	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs691935	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs691983	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs692052	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs692564	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71515589	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999542	chr1:158015715-158368132	Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv872479	chr1:158118787-158484285	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv872480	chr1:158153526-158450238	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	esv13585	chr1:158159222-158214160	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv1814455	chr1:158160528-158200312	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv508626	chr1:158161932-158242158	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv527619	chr1:158168563-158170546	Active TSS Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:158164000-158172800	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr1:158167200-158170400	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr1:158168000-158172800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr1:158169200-158170600	Transcr. at gene 5' and 3'	Dnd41	blood
5	chr1:158169400-158170200	Weak transcription	Fetal Thymus	thymus
6	chr1:158169600-158170400	Active TSS	Primary T cells from cord blood	blood
7	chr1:158169600-158170600	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr1:158170000-158170800	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr1:158170000-158171400	Active TSS	Thymus	Thymus

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