Variant report

Variant	rs16869554
Chromosome Location	chr5:90484131-90484132
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	chr5:90475268..90476871-chr5:90481758..90484320,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10514346	0.85[CEU][hapmap];0.81[CHB][hapmap];0.91[JPT][hapmap];0.82[EUR][1000 genomes]
rs12655796	0.92[ASN][1000 genomes]
rs16869562	1.00[CEU][hapmap];0.82[CHB][hapmap];0.85[GIH][hapmap];0.91[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16869564	0.85[CEU][hapmap];0.80[CHB][hapmap];0.91[JPT][hapmap];0.84[EUR][1000 genomes]
rs2063462	0.85[CEU][hapmap];0.81[JPT][hapmap];0.82[EUR][1000 genomes]
rs57437843	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57778265	0.98[EUR][1000 genomes]
rs61156097	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024813	chr5:90321535-90870739	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv537806	chr5:90321535-90870739	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90467600-90485600	Weak transcription	Fetal Intestine Small	intestine
2	chr5:90473400-90485600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:90478600-90486000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr5:90478800-90485200	Weak transcription	NHDF-Ad	bronchial
5	chr5:90479000-90485600	Weak transcription	HSMM	muscle
6	chr5:90479800-90485400	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr5:90479800-90485400	Weak transcription	Adipose Nuclei	Adipose
8	chr5:90479800-90485400	Weak transcription	Placenta	Placenta
9	chr5:90479800-90485800	Weak transcription	K562	blood
10	chr5:90480000-90485400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr5:90480000-90485400	Weak transcription	Colon Smooth Muscle	Colon
12	chr5:90480000-90485400	Weak transcription	Fetal Muscle Leg	muscle
13	chr5:90480000-90486000	Weak transcription	Stomach Mucosa	stomach
14	chr5:90480200-90485400	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr5:90480200-90485600	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr5:90480200-90485800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr5:90480200-90487000	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr5:90480400-90485400	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr5:90483000-90485600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr5:90483400-90485800	Weak transcription	HMEC	breast
21	chr5:90483600-90484600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr5:90483600-90485000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr5:90484000-90485000	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr5:90484000-90485200	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr5:90484000-90485400	Weak transcription	Esophagus	oesophagus

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