Variant report

Variant	rs73579680
Chromosome Location	chr8:52318983-52318984
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10093325	1.00[AMR][1000 genomes]
rs10099947	1.00[AMR][1000 genomes]
rs10108597	1.00[AMR][1000 genomes]
rs10282900	1.00[AMR][1000 genomes]
rs1318142	1.00[AMR][1000 genomes]
rs2217524	1.00[AMR][1000 genomes]
rs2915506	1.00[AMR][1000 genomes]
rs2979115	1.00[AMR][1000 genomes]
rs56804147	1.00[AMR][1000 genomes]
rs57155671	1.00[AMR][1000 genomes]
rs57492114	1.00[AMR][1000 genomes]
rs58535627	1.00[AMR][1000 genomes]
rs58900486	1.00[AMR][1000 genomes]
rs59179309	1.00[AMR][1000 genomes]
rs59313662	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59625467	1.00[AMR][1000 genomes]
rs59713862	1.00[AMR][1000 genomes]
rs59774513	1.00[AMR][1000 genomes]
rs59882925	1.00[AMR][1000 genomes]
rs59972649	1.00[AMR][1000 genomes]
rs60447624	0.86[AFR][1000 genomes]
rs60457676	0.84[AFR][1000 genomes]
rs60820519	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60902678	1.00[AMR][1000 genomes]
rs61134940	1.00[AMR][1000 genomes]
rs61305961	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61336437	1.00[AMR][1000 genomes]
rs61443409	1.00[AMR][1000 genomes]
rs6984116	0.82[AFR][1000 genomes]
rs6984579	1.00[AMR][1000 genomes]
rs6989113	1.00[AMR][1000 genomes]
rs6990005	1.00[AMR][1000 genomes]
rs6992320	1.00[AMR][1000 genomes]
rs7011456	1.00[AMR][1000 genomes]
rs7013608	1.00[AMR][1000 genomes]
rs73573886	1.00[AMR][1000 genomes]
rs73573893	1.00[AMR][1000 genomes]
rs73573897	1.00[AMR][1000 genomes]
rs73573901	1.00[AMR][1000 genomes]
rs73577617	1.00[AMR][1000 genomes]
rs73577619	1.00[AMR][1000 genomes]
rs73577620	1.00[AMR][1000 genomes]
rs73577621	1.00[AMR][1000 genomes]
rs73577623	1.00[AMR][1000 genomes]
rs73577678	1.00[AMR][1000 genomes]
rs73577680	1.00[AMR][1000 genomes]
rs73577701	1.00[AMR][1000 genomes]
rs73579637	0.82[AFR][1000 genomes]
rs73579639	1.00[AMR][1000 genomes]
rs73579644	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73579645	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73579656	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73579662	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73579671	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73579673	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73579675	1.00[AMR][1000 genomes]
rs73579682	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73579687	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73581425	1.00[AMR][1000 genomes]
rs73581432	1.00[AMR][1000 genomes]
rs73583005	1.00[AMR][1000 genomes]
rs73583068	1.00[AMR][1000 genomes]
rs73583070	1.00[AMR][1000 genomes]
rs73583076	1.00[AMR][1000 genomes]
rs73583082	1.00[AMR][1000 genomes]
rs73583096	1.00[AMR][1000 genomes]
rs73583098	1.00[AMR][1000 genomes]
rs73586772	1.00[AMR][1000 genomes]
rs73588736	1.00[AMR][1000 genomes]
rs73588737	1.00[AMR][1000 genomes]
rs7831357	1.00[AMR][1000 genomes]
rs7832682	1.00[AMR][1000 genomes]
rs7838528	1.00[AMR][1000 genomes]
rs9785122	0.97[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	nsv932026	chr8:51858658-52758574	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv948338	chr8:52060314-52368754	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv890895	chr8:52190571-52615191	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv817615	chr8:52252405-53023384	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52307600-52320600	Weak transcription	Right Ventricle	heart
2	chr8:52309000-52319000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:52311000-52321200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:52316800-52342200	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr8:52317600-52321000	Weak transcription	Aorta	Aorta
6	chr8:52318000-52319000	Enhancers	Osteobl	bone
7	chr8:52318000-52319200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr8:52318000-52321600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:52318200-52319000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr8:52318200-52319200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr8:52318400-52319200	Enhancers	Left Ventricle	heart
12	chr8:52318400-52319200	Enhancers	NHDF-Ad	bronchial
13	chr8:52318800-52319200	Enhancers	Fetal Muscle Leg	muscle
14	chr8:52318800-52319600	Enhancers	H1 Cell Line	embryonic stem cell
15	chr8:52318800-52320600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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