Variant report

No.	Distal block	Cell Line	Cell type
1	chr1:209391225..209393243-chr1:209555461..209557168,2	MCF-7	breast:
2	chr1:209390755..209393055-chr1:209601182..209604562,3	MCF-7	breast:
3	chr1:209388184..209391480-chr1:209391851..209395269,3	MCF-7	breast:
4	chr1:209390523..209392152-chr1:209605244..209606855,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000230937	Chromatin interaction

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

rs_ID	r²[population]
rs10494918	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17188002	0.83[EUR][1000 genomes]
rs17188009	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17188016	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55933101	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56805778	0.85[EUR][1000 genomes]
rs57720299	0.83[EUR][1000 genomes]
rs59563227	0.83[EUR][1000 genomes]
rs59658508	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6657861	0.80[EUR][1000 genomes]
rs6671102	0.84[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs73083997	0.83[EUR][1000 genomes]
rs73085905	0.83[EUR][1000 genomes]
rs73085915	0.92[EUR][1000 genomes]
rs73085916	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73085919	0.87[AFR][1000 genomes]
rs73085921	0.82[AFR][1000 genomes]
rs73085926	0.87[AFR][1000 genomes]
rs73085932	0.82[AFR][1000 genomes]
rs74155426	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][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	nsv832481	chr1:209371276-209540333	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv832492	chr1:209383771-209589312	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr1:209389400-209392000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr1:209389800-209392200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:209390200-209392800	Weak transcription	Esophagus	oesophagus
4	chr1:209390400-209391400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:209391000-209391400	Weak transcription	Dnd41	blood
6	chr1:209391200-209391400	Enhancers	Fetal Brain Male	brain

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