Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:83538640..83540681-chr12:83564566..83567438,2	K562	blood:

Variant related genes	Relation type
ENSG00000258338	Chromatin interaction

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10746269	1.00[ASN][1000 genomes]
rs10778942	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10778944	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.88[MEX][hapmap];0.98[TSI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10778947	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10862591	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10862592	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10862593	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11115617	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11115618	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11115619	0.95[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12312624	0.85[AFR][1000 genomes]
rs12825002	1.00[CHB][hapmap]
rs1517812	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1517826	1.00[CHB][hapmap]
rs1607280	1.00[CHB][hapmap]
rs1914518	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4882437	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4882549	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7309961	1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7974669	0.85[AMR][1000 genomes];0.87[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	nsv521849	chr12:83013783-83991479	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv559559	chr12:83505512-83765069	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr12:83516400-83538800	Weak transcription	Fetal Brain Male	brain
2	chr12:83527000-83539200	Weak transcription	Colon Smooth Muscle	Colon
3	chr12:83534400-83539200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:83537000-83539200	Weak transcription	Left Ventricle	heart
5	chr12:83537800-83540000	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr12:83538200-83538800	Weak transcription	Fetal Brain Female	brain
7	chr12:83538600-83540200	Enhancers	Fetal Heart	heart

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