Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:142870857..142873043-chr2:142887143..142889170,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168702	Chromatin interaction

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1001628	0.93[ASN][1000 genomes]
rs1011861	0.82[ASN][1000 genomes]
rs10179879	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10181071	1.00[ASN][1000 genomes]
rs10201480	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11677303	0.80[ASN][1000 genomes]
rs12691633	0.86[ASN][1000 genomes]
rs12994651	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13012748	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13398962	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13400121	1.00[ASN][1000 genomes]
rs13401617	1.00[ASN][1000 genomes]
rs13405280	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13408764	1.00[ASN][1000 genomes]
rs1375607	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1449502	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1562705	0.80[ASN][1000 genomes]
rs16847971	0.80[ASN][1000 genomes]
rs34199884	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34725547	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35975765	1.00[ASN][1000 genomes]
rs4267463	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs895935	0.80[ASN][1000 genomes]
rs9630925	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[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	nsv997274	chr2:142760393-143599193	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv526107	chr2:142768518-142884248	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv875254	chr2:142833327-142931146	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1006247	chr2:142851056-143289465	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:142869400-142871600	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr2:142870000-142871400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr2:142870000-142878400	Weak transcription	Brain Hippocampus Middle	brain
4	chr2:142870200-142871400	Enhancers	Hela-S3	cervix
5	chr2:142870600-142871400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:142870600-142871400	Enhancers	Brain Substantia Nigra	brain
7	chr2:142870800-142877400	Weak transcription	Brain Anterior Caudate	brain
8	chr2:142871000-142874600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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