Variant report

Variant	rs74104259
Chromosome Location	chr1:97472612-97472613
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11165722	1.00[AMR][1000 genomes]
rs12069444	1.00[AMR][1000 genomes]
rs12082415	1.00[AMR][1000 genomes]
rs290823	1.00[AMR][1000 genomes]
rs55737241	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55890675	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55896709	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56116315	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56283857	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57607396	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58372929	1.00[AMR][1000 genomes]
rs59996661	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60455988	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60480849	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61208874	1.00[AMR][1000 genomes]
rs74104255	1.00[AMR][1000 genomes]
rs74104256	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74104257	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74104311	1.00[AMR][1000 genomes]
rs74104313	1.00[AMR][1000 genomes]
rs74106608	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74106609	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74106636	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74106638	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74106640	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74106641	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74106643	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74106677	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74106679	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74106684	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74106701	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491816	chr1:97266403-98223619	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv530048	chr1:97457175-98031501	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1007950	chr1:97466488-98021146	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:97471200-97472800	Enhancers	HSMMtube	muscle
2	chr1:97471200-97473400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:97471800-97472800	Enhancers	Brain Substantia Nigra	brain
4	chr1:97471800-97473200	Enhancers	Brain Germinal Matrix	brain
5	chr1:97472000-97473000	Weak transcription	NHDF-Ad	bronchial
6	chr1:97472200-97472800	Enhancers	Brain Hippocampus Middle	brain
7	chr1:97472200-97473600	Enhancers	Osteobl	bone
8	chr1:97472200-97477400	Weak transcription	Aorta	Aorta
9	chr1:97472200-97479200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:97472400-97473600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:97472400-97476000	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr1:97472600-97479200	Weak transcription	NH-A	brain

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