Variant report

Variant	rs1516740
Chromosome Location	chr4:104295787-104295788
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10009242	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.88[MKK][hapmap];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10212959	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1156669	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11734572	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1356293	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1400365	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1607094	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1607095	0.81[ASN][1000 genomes]
rs2138592	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28397882	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28498687	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2866645	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28728298	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4481237	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6533082	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6533083	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6533088	0.90[ASN][1000 genomes]
rs6821137	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6822783	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6828151	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6828829	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.85[TSI][hapmap];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6836157	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6855777	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7699661	0.83[ASN][1000 genomes]
rs951598	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015023	chr4:104039145-104565217	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	esv2757947	chr4:104179925-104342395	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv2759271	chr4:104179925-104342395	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv3348747	chr4:104214627-104609795	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv879686	chr4:104260725-104335667	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv879687	chr4:104288620-104371785	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:104283800-104296400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:104293600-104296800	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr4:104294000-104296600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr4:104294000-104296800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr4:104294200-104295800	Weak transcription	HUVEC	blood vessel
6	chr4:104294400-104298600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr4:104295000-104296800	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr4:104295200-104296800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr4:104295200-104296800	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr4:104295200-104296800	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr4:104295400-104296000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:104295600-104295800	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr4:104295600-104296000	Weak transcription	H1 Cell Line	embryonic stem cell

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