Variant report

Variant	rs2865447
Chromosome Location	chr4:96293643-96293644
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10024121	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10516964	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1384868	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1586163	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17023543	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17023545	0.82[EUR][1000 genomes]
rs17023644	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28621043	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28687238	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66969062	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7687905	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869528	chr4:95537649-96368018	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS 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	nsv1001955	chr4:96216118-96445841	Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:96278800-96295600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:96285200-96334600	Weak transcription	Aorta	Aorta
3	chr4:96285800-96295400	Weak transcription	Fetal Kidney	kidney
4	chr4:96285800-96305400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr4:96291600-96294200	Enhancers	Brain Substantia Nigra	brain
6	chr4:96291600-96294800	Enhancers	Brain Cingulate Gyrus	brain
7	chr4:96292000-96295600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr4:96292800-96294200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr4:96293400-96293800	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr4:96293400-96294600	Weak transcription	Fetal Lung	lung
11	chr4:96293400-96298000	Weak transcription	Brain Angular Gyrus	brain
12	chr4:96293400-96298200	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr4:96293400-96303400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr4:96293600-96294000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr4:96293600-96298000	Weak transcription	Brain Anterior Caudate	brain
16	chr4:96293600-96298200	Weak transcription	Brain Hippocampus Middle	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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