Variant report

Variant	rs3110617
Chromosome Location	chr8:59701203-59701204
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:59694005..59696873-chr8:59701072..59703628,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs16923739	0.89[AMR][1000 genomes]
rs16923744	0.89[AMR][1000 genomes]
rs16923959	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2634496	0.89[AMR][1000 genomes]
rs2634514	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2634516	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2634518	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2634528	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2693434	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2693438	0.89[AMR][1000 genomes]
rs2693440	0.89[AMR][1000 genomes]
rs2693448	0.89[AMR][1000 genomes]
rs2693449	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2693451	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2726576	0.89[AMR][1000 genomes]
rs2726587	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2726602	0.94[AMR][1000 genomes];0.81[EUR][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	nsv890938	chr8:59355053-59809785	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59697000-59701400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr8:59697600-59701400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr8:59698200-59704000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr8:59698400-59705600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr8:59698600-59703600	Weak transcription	Osteobl	bone
6	chr8:59698800-59701600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr8:59698800-59704000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr8:59699200-59702000	Weak transcription	Thymus	Thymus
9	chr8:59699800-59701400	Weak transcription	Fetal Thymus	thymus
10	chr8:59699800-59701800	Weak transcription	Dnd41	blood
11	chr8:59700000-59701600	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr8:59700000-59702000	Enhancers	Fetal Stomach	stomach
13	chr8:59700200-59702600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr8:59700600-59702400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr8:59700600-59703400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr8:59700800-59701400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr8:59700800-59703800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr8:59701000-59702600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr8:59701000-59703200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr8:59701200-59701400	Enhancers	Aorta	Aorta
21	chr8:59701200-59702400	Enhancers	Fetal Muscle Leg	muscle
22	chr8:59701200-59704200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:59701200-59704600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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