Variant report

Variant	rs11741740
Chromosome Location	chr5:89871514-89871515
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	chr5:89871376..89873252-chr5:89879299..89881378,2	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10058765	0.82[ASN][1000 genomes]
rs10060427	0.82[ASN][1000 genomes]
rs10062714	0.82[ASN][1000 genomes]
rs10062924	0.82[ASN][1000 genomes]
rs10072105	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10473936	0.92[ASN][1000 genomes]
rs10514328	0.89[ASN][1000 genomes]
rs12516985	0.82[ASN][1000 genomes]
rs1673379	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16868957	0.82[ASN][1000 genomes]
rs1700510	0.93[ASN][1000 genomes]
rs1700511	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2366773	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2366774	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2366777	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28550273	0.82[ASN][1000 genomes]
rs4379236	0.82[ASN][1000 genomes]
rs4574581	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs474800	0.94[ASN][1000 genomes]
rs490812	0.93[ASN][1000 genomes]
rs491241	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4916681	0.82[ASN][1000 genomes]
rs4916682	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4916813	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4916814	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs498491	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs501640	0.91[ASN][1000 genomes]
rs502596	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs552314	0.94[ASN][1000 genomes]
rs558809	0.82[ASN][1000 genomes]
rs587818	0.88[ASN][1000 genomes]
rs617379	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs618355	0.80[ASN][1000 genomes]
rs623761	0.94[ASN][1000 genomes]
rs637442	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs645652	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs648430	0.81[ASN][1000 genomes]
rs666659	0.92[ASN][1000 genomes]
rs6870337	0.82[AMR][1000 genomes]
rs6878917	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6883872	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6888355	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs688956	0.94[ASN][1000 genomes]
rs688960	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6891275	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6898209	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7726624	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7729703	0.81[ASN][1000 genomes]
rs9283788	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs963866	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9790907	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][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	nsv1021142	chr5:89102893-89897826	Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv537804	chr5:89102893-89897826	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv432750	chr5:89410113-90137144	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv432751	chr5:89457044-90090444	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv529544	chr5:89523963-90412409	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
6	nsv882365	chr5:89770768-89882618	Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv882366	chr5:89826726-89894564	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
8	nsv933668	chr5:89854253-89999672	Strong transcription Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 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	chr5:89859400-89884200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:89867400-89872600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:89867400-89889200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr5:89868800-89871600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr5:89868800-89884400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr5:89869200-89881200	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr5:89869600-89871600	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr5:89871000-89871600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr5:89871200-89871600	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr5:89871200-89871800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:89871200-89872000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr5:89871400-89871600	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr5:89871400-89871800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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