Variant report

Variant	rs6506553
Chromosome Location	chr18:8190360-8190361
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs28549744	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs59945947	1.00[AMR][1000 genomes]
rs7228327	0.82[AFR][1000 genomes]
rs7238378	0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs7245367	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73391915	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73391920	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8082754	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9916918	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9916939	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9947075	0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs9953325	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9956665	0.81[YRI][hapmap];1.00[AMR][1000 genomes]
rs9957664	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9964860	0.98[AFR][1000 genomes];1.00[AMR][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:23 , 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	chr18:8177800-8192800	Weak transcription	Fetal Heart	heart
4	chr18:8178000-8190800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr18:8178000-8191200	Weak transcription	Gastric	stomach
6	chr18:8178000-8192400	Weak transcription	A549	lung
7	chr18:8178000-8193600	Weak transcription	Ovary	ovary
8	chr18:8178000-8198400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr18:8178000-8204800	Weak transcription	Right Ventricle	heart
10	chr18:8178000-8230000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr18:8178200-8191000	Weak transcription	Psoas Muscle	Psoas
12	chr18:8178200-8200200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr18:8178200-8212400	Weak transcription	Adipose Nuclei	Adipose
14	chr18:8178200-8216400	Weak transcription	Spleen	Spleen
15	chr18:8179000-8196200	Weak transcription	Primary T cells from cord blood	blood
16	chr18:8181400-8216800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr18:8181600-8212000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr18:8185600-8199200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr18:8186800-8198600	Weak transcription	Right Atrium	heart
20	chr18:8187400-8211800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr18:8187600-8191000	Weak transcription	Left Ventricle	heart
22	chr18:8188600-8191000	Weak transcription	Pancreas	Pancrea
23	chr18:8188600-8192800	Weak transcription	Stomach Smooth Muscle	stomach

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