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:29)

rs_ID	r²[population]
rs10875695	0.94[ASN][1000 genomes]
rs10875697	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10875700	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10875701	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10875702	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10875703	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10875704	0.81[EUR][1000 genomes]
rs11168307	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11168308	0.86[EUR][1000 genomes]
rs11168311	0.82[EUR][1000 genomes]
rs11568820	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11829292	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12304114	0.84[ASN][1000 genomes]
rs12316950	0.87[EUR][1000 genomes]
rs4254129	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4402365	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4442605	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4454781	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61920870	0.83[EUR][1000 genomes]
rs7136534	0.86[ASN][1000 genomes]
rs7300088	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7300301	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7302235	0.94[ASN][1000 genomes]
rs7303966	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7305180	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7308216	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7965397	0.85[ASN][1000 genomes]
rs7970314	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7976091	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][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:12 , 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	chr12:48302800-48305400	Weak transcription	Colonic Mucosa	Colon
4	chr12:48302800-48305400	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr12:48303400-48306000	Enhancers	Duodenum Mucosa	Duodenum
6	chr12:48303600-48305400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:48304200-48305400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr12:48304600-48305800	Weak transcription	Small Intestine	intestine
9	chr12:48304800-48305800	Weak transcription	Fetal Intestine Large	intestine
10	chr12:48304800-48306200	Weak transcription	Fetal Heart	heart
11	chr12:48305200-48306200	Weak transcription	HepG2	liver
12	chr12:48305200-48307400	Enhancers	Fetal Intestine Small	intestine

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