Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:40847291..40849626-chr5:40854457..40858364,3	K562	blood:
2	chr5:40853432..40855800-chr5:40856837..40858853,2	K562	blood:

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

rs_ID	r²[population]
rs11744119	0.86[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs178929	0.84[AFR][1000 genomes]
rs1812960	0.84[AFR][1000 genomes]
rs1827364	0.88[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs1910015	0.81[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2122570	0.89[ASN][1000 genomes]
rs2271709	0.84[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2675979	0.86[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2675981	0.86[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs324062	0.84[AFR][1000 genomes]
rs324064	0.88[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs324070	0.92[ASN][1000 genomes]
rs324071	0.84[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs324073	0.84[AFR][1000 genomes]
rs4360083	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4957358	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59027389	0.86[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs60480205	0.98[ASN][1000 genomes]
rs6888489	0.90[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs6890698	0.96[ASN][1000 genomes]
rs6895317	0.87[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs73088503	0.96[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs73088510	0.87[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs7702096	0.96[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7715597	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv880438	chr5:40753877-40900717	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	160 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	chr5:40843600-40857800	Weak transcription	Osteobl	bone
2	chr5:40849800-40857400	Weak transcription	Primary B cells from cord blood	blood
3	chr5:40852800-40865200	Weak transcription	Pancreas	Pancrea
4	chr5:40853400-40857600	Weak transcription	HUVEC	blood vessel
5	chr5:40854600-40857400	Weak transcription	Adipose Nuclei	Adipose
6	chr5:40854600-40857400	Weak transcription	Gastric	stomach
7	chr5:40854600-40857400	Weak transcription	Spleen	Spleen
8	chr5:40854600-40857600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr5:40854600-40862600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr5:40854800-40857400	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr5:40856000-40858800	Weak transcription	Lung	lung
12	chr5:40856200-40871400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:40856400-40860200	Weak transcription	Primary neutrophils fromperipheralblood	blood

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