Variant report

Variant	rs1599445
Chromosome Location	chr4:73711906-73711907
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:73711557..73713794-chr4:73715010..73716796,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11723795	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11728884	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11730890	0.86[EUR][1000 genomes]
rs11731713	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11731791	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1461524	0.82[EUR][1000 genomes]
rs1593448	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1593451	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1813161	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1813162	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1813163	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2010756	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2126206	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2194933	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4146484	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4382014	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4694141	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59830186	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60589574	0.85[EUR][1000 genomes]
rs6446885	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6446894	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6446895	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6810425	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6815004	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6822170	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6825201	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6829946	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6832369	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6833453	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6845164	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6858763	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7377303	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7440448	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7665035	0.84[EUR][1000 genomes]
rs7676987	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7681727	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7688481	0.83[EUR][1000 genomes]
rs7694027	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7700231	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949371	chr4:73678470-74094500	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	esv2757068	chr4:73683018-73770378	Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv2759261	chr4:73683018-73770378	Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv436952	chr4:73693532-73759117	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv437923	chr4:73699066-73758650	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv818243	chr4:73707973-73758511	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv1005704	chr4:73708248-73907315	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv829971	chr4:73709753-73880451	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:73707000-73712000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:73711800-73712000	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr4:73711800-73712200	Enhancers	H9 Cell Line	embryonic stem cell
4	chr4:73711800-73712600	Flanking Active TSS	K562	blood
5	chr4:73711800-73712800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:73711800-73712800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr4:73711800-73712800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr4:73711800-73712800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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