Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:20309388..20317484-chr2:20420940..20426619,17	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115884	Chromatin interaction

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10169811	0.83[EUR][1000 genomes]
rs10171384	0.83[EUR][1000 genomes]
rs10195803	0.83[EUR][1000 genomes]
rs10199614	0.83[EUR][1000 genomes]
rs10207632	0.83[EUR][1000 genomes]
rs1028054	0.83[EUR][1000 genomes]
rs1028055	0.83[EUR][1000 genomes]
rs11677734	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11679737	0.82[AMR][1000 genomes]
rs11690530	0.82[AMR][1000 genomes]
rs11692546	0.80[AMR][1000 genomes]
rs13005386	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34694787	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55971461	0.83[EUR][1000 genomes]
rs6531206	0.83[EUR][1000 genomes]
rs6531207	0.82[EUR][1000 genomes]
rs6749952	0.82[EUR][1000 genomes]
rs7556745	0.83[EUR][1000 genomes]
rs7558628	0.83[EUR][1000 genomes]
rs7572608	0.83[EUR][1000 genomes]
rs7583420	0.83[EUR][1000 genomes]
rs7609013	0.83[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	nsv1009521	chr2:20310479-20388959	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv3323329	chr2:20314271-20318569	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11677683	AC098828.2	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20306600-20318400	Enhancers	Placenta	Placenta
2	chr2:20306800-20318200	Weak transcription	Right Ventricle	heart
3	chr2:20308000-20322200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:20312800-20316800	Enhancers	Fetal Intestine Large	intestine
5	chr2:20313000-20316800	Enhancers	Fetal Intestine Small	intestine
6	chr2:20313000-20317000	Enhancers	Stomach Mucosa	stomach
7	chr2:20313200-20316800	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr2:20314200-20318000	Weak transcription	Spleen	Spleen
9	chr2:20314200-20322200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:20314800-20317000	Weak transcription	Small Intestine	intestine
11	chr2:20315000-20316800	Enhancers	Duodenum Mucosa	Duodenum
12	chr2:20315000-20317200	Enhancers	HepG2	liver
13	chr2:20316400-20322000	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr2:20316600-20317200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr2:20316600-20318600	Weak transcription	Esophagus	oesophagus

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