Variant report

Variant	rs4245993
Chromosome Location	chr5:106456542-106456543
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 82 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10043242	0.82[ASN][1000 genomes]
rs10060196	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1030172	0.82[ASN][1000 genomes]
rs1030173	0.82[ASN][1000 genomes]
rs1030174	0.82[ASN][1000 genomes]
rs10479394	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10900898	0.84[ASN][1000 genomes]
rs11242626	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11242627	0.85[ASN][1000 genomes]
rs11949192	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11960038	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12522490	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12522515	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1345636	0.87[ASN][1000 genomes]
rs1345637	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1363311	0.87[EUR][1000 genomes]
rs1549175	0.92[ASN][1000 genomes]
rs1833606	0.83[ASN][1000 genomes]
rs2410933	0.80[ASN][1000 genomes]
rs2410935	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2410938	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2410939	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2410940	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2410941	0.96[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2410942	0.85[ASN][1000 genomes]
rs2410943	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2410944	0.85[ASN][1000 genomes]
rs2410945	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2410946	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2410947	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2410948	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2410949	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2410951	0.84[ASN][1000 genomes]
rs2410952	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2898604	0.84[ASN][1000 genomes]
rs4143065	0.91[EUR][1000 genomes]
rs4429838	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4524495	0.85[ASN][1000 genomes]
rs4535439	0.84[ASN][1000 genomes]
rs4557390	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4572985	0.87[EUR][1000 genomes]
rs4631165	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4637535	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4957530	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4957531	0.83[ASN][1000 genomes]
rs4957685	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4957687	0.84[ASN][1000 genomes]
rs4957688	0.84[ASN][1000 genomes]
rs4957690	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55689542	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58196349	0.85[ASN][1000 genomes]
rs6596717	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6596719	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6596720	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6596721	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6596722	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6596730	0.87[EUR][1000 genomes]
rs6862257	0.83[ASN][1000 genomes]
rs6864971	0.88[ASN][1000 genomes]
rs6865431	0.85[ASN][1000 genomes]
rs6866458	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6870023	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6871050	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6871532	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6878038	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6881511	0.88[EUR][1000 genomes]
rs6884885	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6885021	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6887291	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6888773	0.91[EUR][1000 genomes]
rs6892104	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6895080	0.84[ASN][1000 genomes]
rs7706390	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7710297	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7710569	0.91[EUR][1000 genomes]
rs7716820	0.85[ASN][1000 genomes]
rs7733658	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7736860	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[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	nsv1030118	chr5:106006097-106847949	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv823170	chr5:106326293-106673695	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv599332	chr5:106403516-106502006	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv2752056	chr5:106422649-106563101	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106454600-106456800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:106454800-106458600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:106455000-106457400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:106455400-106458800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr5:106455400-106459200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr5:106455800-106457400	Weak transcription	Fetal Heart	heart
7	chr5:106456200-106456800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr5:106456200-106457400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr5:106456200-106458800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr5:106456400-106458800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr5:106456400-106458800	Weak transcription	HUES64 Cell Line	embryonic stem cell

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