Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:39875560..39877242-chr18:39879543..39881987,2	K562	blood:

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10502782	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10502783	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11082269	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12604128	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12606796	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12967992	0.86[ASN][1000 genomes]
rs1381344	0.84[ASN][1000 genomes]
rs1381345	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1461704	0.99[ASN][1000 genomes]
rs16975802	0.87[EUR][1000 genomes]
rs16975811	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4890232	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59555547	1.00[EUR][1000 genomes]
rs7235200	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7240321	1.00[ASN][1000 genomes]
rs73459515	1.00[EUR][1000 genomes]
rs73461272	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8089535	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9946713	0.85[ASN][1000 genomes]
rs9955570	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9967444	1.00[ASN][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	nsv949609	chr18:39126941-40070286	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1059409	chr18:39711099-40139446	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1063343	chr18:39760943-39898498	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:39874800-39878600	Weak transcription	Brain Substantia Nigra	brain
2	chr18:39874800-39879000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr18:39875000-39876200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr18:39875000-39879000	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr18:39875000-39879000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

Quick Search: