Variant report

Variant	rs12644347
Chromosome Location	chr4:85077677-85077678
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10516709	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12643400	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12648456	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12649011	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12651174	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1317011	0.84[AMR][1000 genomes]
rs17008059	0.86[AMR][1000 genomes]
rs17008168	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1882385	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1882389	0.86[AMR][1000 genomes]
rs1921861	0.85[AMR][1000 genomes]
rs2868869	0.82[AMR][1000 genomes]
rs2868871	0.85[AMR][1000 genomes]
rs2868874	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62301631	0.85[AMR][1000 genomes]
rs62301632	0.86[AMR][1000 genomes]
rs62301635	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72613139	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72613140	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879512	chr4:84374692-85090749	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv916422	chr4:84965304-85145657	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv524354	chr4:85006975-85215142	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv829996	chr4:85016673-85173300	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv879514	chr4:85057124-85272572	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1012379	chr4:85071268-85205732	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:85076800-85080400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr4:85077000-85078200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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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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