Variant report

Variant	rs28438851
Chromosome Location	chr18:8193259-8193260
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:8185001..8187861-chr18:8190708..8193578,3	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11081363	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11875152	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12962187	0.81[AMR][1000 genomes]
rs12963432	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4798615	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6506555	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7228465	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7232316	1.00[ASN][1000 genomes]
rs7233623	0.96[ASN][1000 genomes]
rs7237562	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs759095	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs8087582	0.88[EUR][1000 genomes]
rs8092461	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9949326	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9958544	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534374	chr18:7438812-8412546	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv458018	chr18:8110805-8645907	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv576426	chr18:8110805-8645907	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv909360	chr18:8167050-8207445	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8170800-8225400	Weak transcription	Aorta	Aorta
2	chr18:8175000-8195000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr18:8178000-8193600	Weak transcription	Ovary	ovary
4	chr18:8178000-8198400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr18:8178000-8204800	Weak transcription	Right Ventricle	heart
6	chr18:8178000-8230000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr18:8178200-8200200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr18:8178200-8212400	Weak transcription	Adipose Nuclei	Adipose
9	chr18:8178200-8216400	Weak transcription	Spleen	Spleen
10	chr18:8179000-8196200	Weak transcription	Primary T cells from cord blood	blood
11	chr18:8181400-8216800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr18:8181600-8212000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr18:8185600-8199200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr18:8186800-8198600	Weak transcription	Right Atrium	heart
15	chr18:8187400-8211800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr18:8191200-8288600	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr18:8191400-8193400	Weak transcription	Psoas Muscle	Psoas
18	chr18:8191600-8200200	Weak transcription	Pancreas	Pancrea
19	chr18:8191800-8211800	Weak transcription	Left Ventricle	heart
20	chr18:8193000-8193600	Weak transcription	Fetal Heart	heart
21	chr18:8193200-8193800	Enhancers	Cortex derived primary cultured neurospheres	brain

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