Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:84371561..84374304-chr1:84536819..84538453,2	K562	blood:
2	chr1:84536131..84538617-chr1:84567747..84570815,3	K562	blood:

Variant related genes	Relation type
ENSG00000137941	Chromatin interaction

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11163870	0.84[ASN][1000 genomes]
rs12094835	0.84[ASN][1000 genomes]
rs12129674	0.91[ASN][1000 genomes]
rs12563929	0.98[ASN][1000 genomes]
rs12567738	0.98[ASN][1000 genomes]
rs12734711	0.93[ASN][1000 genomes]
rs1521519	0.93[ASN][1000 genomes]
rs17130873	0.98[ASN][1000 genomes]
rs17475438	0.84[ASN][1000 genomes]
rs34654680	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34880060	0.98[ASN][1000 genomes]
rs34972329	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35000319	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35105659	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35760860	0.98[ASN][1000 genomes]
rs36173422	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs41300540	0.91[ASN][1000 genomes]
rs57443421	0.84[ASN][1000 genomes]
rs59779864	0.80[ASN][1000 genomes]
rs60455471	0.88[ASN][1000 genomes]
rs61360062	0.90[ASN][1000 genomes]
rs61766872	0.84[ASN][1000 genomes]
rs6699590	0.88[ASN][1000 genomes]
rs71652665	0.98[ASN][1000 genomes]
rs71652666	0.98[ASN][1000 genomes]
rs71652667	0.98[ASN][1000 genomes]
rs72721436	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1732	chr1:84499098-84544635	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv871655	chr1:84517261-84550849	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv546689	chr1:84531117-84670816	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	esv3379138	chr1:84531980-84545128	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84536600-84542400	Weak transcription	Fetal Lung	lung
2	chr1:84537600-84541000	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr1:84537600-84541000	Weak transcription	K562	blood
4	chr1:84538000-84538200	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr1:84538000-84541200	Weak transcription	Liver	Liver
6	chr1:84538000-84542000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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