Variant report

No.	Distal block	Cell Line	Cell type
1	chr5:145076760..145077364-chr5:145300197..145301114,2	K562	blood:
2	chr5:145075981..145078499-chr5:145212662..145215642,2	MCF-7	breast:
3	chr5:145076888..145077592-chr5:145191540..145192583,3	MCF-7	breast:
4	chr5:145076480..145077302-chr5:145266518..145267420,2	K562	blood:

Variant related genes	Relation type
ENSG00000186314	Chromatin interaction

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10515552	0.89[AMR][1000 genomes]
rs10515554	0.89[AMR][1000 genomes]
rs10515557	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs1529705	0.89[AMR][1000 genomes]
rs1560685	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs17103502	0.82[AMR][1000 genomes]
rs17103568	0.89[AMR][1000 genomes]
rs17103584	0.89[AMR][1000 genomes]
rs17103587	0.89[AMR][1000 genomes]
rs17103591	0.89[AMR][1000 genomes]
rs17103595	0.89[AMR][1000 genomes]
rs17103600	0.89[AMR][1000 genomes]
rs17103601	0.89[AMR][1000 genomes]
rs17103610	0.89[AMR][1000 genomes]
rs17103632	0.86[AMR][1000 genomes]
rs17103639	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17103640	0.90[AFR][1000 genomes]
rs2116816	0.81[AMR][1000 genomes]
rs2195939	0.84[AMR][1000 genomes]
rs57531568	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs61119648	0.86[AMR][1000 genomes]
rs61352712	0.91[AMR][1000 genomes]
rs61369168	0.82[AMR][1000 genomes]
rs62392303	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62392311	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62392313	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6862768	0.86[AMR][1000 genomes]
rs7449409	0.89[AMR][1000 genomes]
rs7722597	0.86[AMR][1000 genomes]
rs953408	0.82[AMR][1000 genomes]
rs956178	0.89[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv883005	chr5:144945649-145107586	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv462474	chr5:145068001-145143775	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv599934	chr5:145068001-145143775	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:145060800-145089600	Weak transcription	Gastric	stomach
2	chr5:145066600-145084200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr5:145068600-145106200	Weak transcription	Duodenum Mucosa	Duodenum
4	chr5:145075400-145090200	Weak transcription	Aorta	Aorta
5	chr5:145076600-145088200	Weak transcription	Right Ventricle	heart
6	chr5:145076800-145077400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr5:145076800-145077400	Enhancers	Hela-S3	cervix
8	chr5:145077000-145077400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr5:145077000-145077400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:145077000-145077400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr5:145077000-145077400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr5:145077000-145077400	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr5:145077000-145077400	Enhancers	A549	lung
14	chr5:145077000-145077400	Enhancers	HSMM	muscle
15	chr5:145077000-145077400	Active TSS	K562	blood
16	chr5:145077000-145077400	Enhancers	Osteobl	bone
17	chr5:145077000-145091000	Weak transcription	Pancreas	Pancrea

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