Variant report

Variant	rs16875471
Chromosome Location	chr5:5374125-5374126
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:5367878..5370649-chr5:5372961..5374840,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10055135	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10475297	1.00[AMR][1000 genomes]
rs12332322	1.00[AMR][1000 genomes]
rs16875470	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16875487	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28477949	1.00[AMR][1000 genomes]
rs28535497	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28537743	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28647861	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2913649	1.00[AMR][1000 genomes]
rs2964420	1.00[AMR][1000 genomes]
rs9313110	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	nsv1024784	chr5:4980979-5391231	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv1032719	chr5:5102763-5387406	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv537621	chr5:5102763-5387406	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:5361800-5375800	Weak transcription	Spleen	Spleen
2	chr5:5365600-5375800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:5370600-5383000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr5:5372200-5374200	Enhancers	Fetal Muscle Trunk	muscle
5	chr5:5372400-5374400	Enhancers	Adipose Nuclei	Adipose
6	chr5:5372400-5374600	Enhancers	Fetal Muscle Leg	muscle
7	chr5:5372600-5377600	Weak transcription	Right Ventricle	heart
8	chr5:5373000-5375000	Enhancers	K562	blood
9	chr5:5373000-5375000	Enhancers	NHDF-Ad	bronchial
10	chr5:5373200-5374600	Enhancers	Esophagus	oesophagus
11	chr5:5373200-5374800	Enhancers	HSMMtube	muscle
12	chr5:5373200-5375000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:5373200-5375000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr5:5373200-5375200	Enhancers	Muscle Satellite Cultured Cells	--
15	chr5:5373200-5375200	Enhancers	HSMM	muscle
16	chr5:5373400-5374200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr5:5373400-5375600	Weak transcription	HepG2	liver
18	chr5:5373400-5376200	Weak transcription	Pancreas	Pancrea
19	chr5:5373400-5376400	Weak transcription	Gastric	stomach
20	chr5:5373400-5381400	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr5:5373600-5374200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr5:5373600-5374400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr5:5373600-5374600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr5:5373600-5375000	Enhancers	NH-A	brain
25	chr5:5373600-5375000	Enhancers	Osteobl	bone
26	chr5:5374000-5374200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr5:5374000-5374600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr5:5374000-5374800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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