Variant report

No.	Distal block	Cell Line	Cell type
1	chr12:48304609..48306148-chr12:48313010..48314925,2	MCF-7	breast:
2	chr12:48305115..48307646-chr12:48309250..48311512,3	K562	blood:
3	chr12:48303456..48306045-chr12:48319476..48321750,3	MCF-7	breast:
4	chr12:48299753..48302171-chr12:48303242..48305976,2	K562	blood:
5	chr12:48290096..48306593-chr12:48332606..48350271,44	MCF-7	breast:
6	chr12:48300307..48302640-chr12:48305049..48306879,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111424	Chromatin interaction

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

rs_ID	r²[population]
rs10875698	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10875700	0.85[YRI][hapmap]
rs10875702	0.89[YRI][hapmap]
rs11168302	0.89[YRI][hapmap];0.81[AFR][1000 genomes]
rs11168303	0.93[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11168304	0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11574032	1.00[JPT][hapmap]
rs12313208	1.00[CHB][hapmap]
rs12721425	1.00[CHB][hapmap]
rs12721427	1.00[CHB][hapmap]
rs1541408	1.00[CHB][hapmap]
rs34438994	1.00[EUR][1000 genomes]
rs4402365	0.81[YRI][hapmap]
rs4411327	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4514490	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57419443	1.00[EUR][1000 genomes]
rs58915362	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61553170	1.00[EUR][1000 genomes]
rs7302038	1.00[JPT][hapmap];0.89[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7970168	0.91[AFR][1000 genomes]
rs7975847	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7979360	0.93[YRI][hapmap];0.91[AFR][1000 genomes];0.82[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428589	chr12:48282920-48341192	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48300000-48307200	Enhancers	Rectal Mucosa Donor 31	rectum
2	chr12:48302600-48306400	Enhancers	Placenta	Placenta
3	chr12:48303400-48306000	Enhancers	Duodenum Mucosa	Duodenum
4	chr12:48304600-48305800	Weak transcription	Small Intestine	intestine
5	chr12:48304800-48305800	Weak transcription	Fetal Intestine Large	intestine
6	chr12:48304800-48306200	Weak transcription	Fetal Heart	heart
7	chr12:48305200-48306200	Weak transcription	HepG2	liver
8	chr12:48305200-48307400	Enhancers	Fetal Intestine Small	intestine
9	chr12:48305400-48306000	Enhancers	Rectal Mucosa Donor 29	rectum
10	chr12:48305400-48306400	Enhancers	Colonic Mucosa	Colon

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