Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:99461401..99464766-chr2:99483724..99486615,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196872	Chromatin interaction

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12611969	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12612736	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12614153	0.96[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12615518	0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12616060	0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12616866	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12619244	1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12620812	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12622254	0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12622445	0.96[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12623022	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12623171	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12623172	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12623472	0.96[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs17021968	0.82[AMR][1000 genomes]
rs2871242	0.96[AMR][1000 genomes]
rs35979410	1.00[AMR][1000 genomes]
rs56943554	1.00[AMR][1000 genomes]
rs57480100	1.00[AMR][1000 genomes]
rs61419135	1.00[AMR][1000 genomes]
rs61552487	1.00[AMR][1000 genomes]
rs61604726	1.00[AMR][1000 genomes]
rs6760422	0.96[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs72958631	0.96[AMR][1000 genomes]
rs7557719	0.93[AMR][1000 genomes]
rs868921	0.90[AMR][1000 genomes];0.96[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	nsv1011278	chr2:99280928-99638376	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535835	chr2:99280928-99638376	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv582517	chr2:99440917-99487972	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99450000-99468400	Weak transcription	Fetal Intestine Small	intestine
2	chr2:99453200-99473200	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr2:99456200-99473000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:99461600-99464800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr2:99462400-99464800	Enhancers	NHDF-Ad	bronchial
6	chr2:99462400-99465000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:99463400-99465600	Weak transcription	Pancreas	Pancrea
8	chr2:99463400-99485400	Weak transcription	Gastric	stomach
9	chr2:99463800-99465000	Enhancers	Muscle Satellite Cultured Cells	--

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