Variant report

Variant	rs17108739
Chromosome Location	chr5:148170305-148170306
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:148168454..148171371-chr5:148185797..148188904,3	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs17108717	1.00[AMR][1000 genomes]
rs17108720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17108723	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17108741	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17108743	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17108745	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59371726	1.00[AMR][1000 genomes]
rs73795130	1.00[AMR][1000 genomes]
rs73795132	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73795134	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73795135	1.00[AMR][1000 genomes]
rs73795136	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73795138	1.00[AFR][1000 genomes];1.00[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	nsv883021	chr5:148060817-148182123	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv462481	chr5:148130138-148172689	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv599946	chr5:148130138-148172689	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:148157200-148170600	Weak transcription	NHDF-Ad	bronchial
2	chr5:148166600-148170400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr5:148166800-148170800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr5:148168000-148171800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:148168200-148170400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr5:148168600-148170400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr5:148168600-148170400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr5:148168800-148170800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr5:148168800-148172400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr5:148169800-148170400	Enhancers	Muscle Satellite Cultured Cells	--
11	chr5:148169800-148171600	Enhancers	Hela-S3	cervix
12	chr5:148170000-148171600	Enhancers	Esophagus	oesophagus
13	chr5:148170000-148171800	Enhancers	Osteobl	bone
14	chr5:148170000-148175600	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr5:148170200-148170400	Enhancers	GM12878-XiMat	blood
16	chr5:148170200-148170600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr5:148170200-148171000	Flanking Active TSS	HMEC	breast
18	chr5:148170200-148171000	Flanking Active TSS	NHEK	skin
19	chr5:148170200-148171800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr5:148170200-148173400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr5:148170200-148174800	Enhancers	Monocytes-CD14+_RO01746	blood

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