Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:45413154..45414877-chr11:45416826..45419299,2	K562	blood:

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1037363	0.88[ASN][1000 genomes]
rs10734532	0.89[AMR][1000 genomes]
rs10742751	1.00[GIH][hapmap];0.82[TSI][hapmap];0.95[AMR][1000 genomes]
rs11038441	0.93[AMR][1000 genomes]
rs11038449	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11038453	0.84[ASN][1000 genomes]
rs12270792	0.84[ASN][1000 genomes]
rs12273702	0.84[ASN][1000 genomes]
rs12283303	0.84[ASN][1000 genomes]
rs1811494	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2044871	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2044873	1.00[GIH][hapmap];0.82[TSI][hapmap];0.93[AMR][1000 genomes]
rs34599685	0.84[ASN][1000 genomes]
rs4755983	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56944051	0.84[ASN][1000 genomes]
rs57466211	0.84[ASN][1000 genomes]
rs58545924	0.84[ASN][1000 genomes]
rs58957446	0.84[ASN][1000 genomes]
rs60977164	0.83[ASN][1000 genomes]
rs73456054	0.84[ASN][1000 genomes]
rs7931345	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7935711	0.91[CHB][hapmap]
rs7945142	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs974312	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530619	chr11:45294176-45553928	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv306	chr11:45414044-45444431	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45405400-45434800	Weak transcription	Right Atrium	heart
2	chr11:45407000-45421000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr11:45412200-45417600	Weak transcription	Fetal Brain Female	brain
4	chr11:45412600-45420400	Weak transcription	Gastric	stomach
5	chr11:45413600-45420200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr11:45414800-45418000	Weak transcription	Ovary	ovary
7	chr11:45415200-45421000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr11:45415400-45419600	Weak transcription	Brain Germinal Matrix	brain
9	chr11:45415800-45421000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr11:45416000-45420200	Weak transcription	Lung	lung
11	chr11:45416000-45423400	Weak transcription	Spleen	Spleen
12	chr11:45417000-45417200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr11:45417000-45417800	Enhancers	Fetal Brain Male	brain
14	chr11:45417000-45418200	Bivalent Enhancer	HepG2	liver

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