Variant report

Variant	rs8091472
Chromosome Location	chr18:8173213-8173214
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs56961106	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7230842	0.84[EUR][1000 genomes]
rs73394042	0.83[EUR][1000 genomes]
rs8086815	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8093791	0.85[EUR][1000 genomes]
rs8094968	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv458020	chr18:8161470-8183260	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv576427	chr18:8161470-8183260	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
6	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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8159000-8176600	Weak transcription	Pancreas	Pancrea
2	chr18:8159000-8177400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr18:8161600-8176600	Weak transcription	Spleen	Spleen
4	chr18:8163000-8177400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr18:8163200-8177800	Weak transcription	Lung	lung
6	chr18:8163400-8174400	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr18:8163600-8175600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr18:8163800-8174400	Weak transcription	Colon Smooth Muscle	Colon
9	chr18:8165800-8174800	Weak transcription	Fetal Heart	heart
10	chr18:8166200-8174800	Weak transcription	Right Ventricle	heart
11	chr18:8168000-8173600	Weak transcription	Psoas Muscle	Psoas
12	chr18:8168000-8174800	Weak transcription	Left Ventricle	heart
13	chr18:8168000-8177400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr18:8170200-8175800	Weak transcription	Fetal Brain Male	brain
15	chr18:8170400-8174800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr18:8170800-8225400	Weak transcription	Aorta	Aorta
17	chr18:8171000-8174000	Weak transcription	Fetal Brain Female	brain
18	chr18:8171800-8173400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr18:8171800-8174000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr18:8172200-8174800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr18:8173000-8173400	Enhancers	Brain Germinal Matrix	brain
22	chr18:8173200-8175800	Weak transcription	A549	lung

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