Variant report

Variant	rs12502649
Chromosome Location	chr4:31025221-31025222
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11935770	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11937701	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11939049	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12511624	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12512723	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12512727	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28414371	0.81[ASN][1000 genomes]
rs55918443	1.00[EUR][1000 genomes]
rs56225968	1.00[EUR][1000 genomes]
rs56385830	1.00[EUR][1000 genomes]
rs56706315	1.00[EUR][1000 genomes]
rs58441575	0.83[AMR][1000 genomes]
rs59407249	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60444821	1.00[EUR][1000 genomes]
rs61138265	1.00[EUR][1000 genomes]
rs61792874	0.82[ASN][1000 genomes]
rs61792875	0.87[ASN][1000 genomes]
rs61792876	0.87[ASN][1000 genomes]
rs61792877	0.87[ASN][1000 genomes]
rs61792878	0.87[ASN][1000 genomes]
rs61792882	0.87[ASN][1000 genomes]
rs61792933	0.87[ASN][1000 genomes]
rs61792934	0.81[ASN][1000 genomes]
rs61792936	0.87[ASN][1000 genomes]
rs6448729	0.87[ASN][1000 genomes]
rs6846615	0.87[ASN][1000 genomes]
rs6847898	0.87[ASN][1000 genomes]
rs73113461	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs73113466	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs73113470	0.83[AMR][1000 genomes]
rs73113475	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73113481	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73113482	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73812523	1.00[EUR][1000 genomes]
rs73812529	1.00[EUR][1000 genomes]
rs73812530	1.00[EUR][1000 genomes]
rs73812541	1.00[EUR][1000 genomes]
rs73812545	1.00[EUR][1000 genomes]
rs73812546	1.00[EUR][1000 genomes]
rs73812557	1.00[EUR][1000 genomes]
rs73812563	1.00[EUR][1000 genomes]
rs7676542	0.87[ASN][1000 genomes]
rs9985629	0.87[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998450	chr4:30823631-31628179	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:31018600-31028200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:31023400-31031200	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr4:31024200-31025800	Enhancers	Colon Smooth Muscle	Colon
4	chr4:31024800-31028800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr4:31025000-31025800	Active TSS	NHEK	skin
6	chr4:31025000-31031000	Weak transcription	Aorta	Aorta
7	chr4:31025200-31025800	Enhancers	Fetal Heart	heart

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