Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:139936351..139938493-chr7:139942116..139943867,2	MCF-7	breast:
2	chr7:139939266..139941938-chr7:139943618..139945652,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000199283	Chromatin interaction

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12672589	0.81[EUR][1000 genomes]
rs17161447	0.85[EUR][1000 genomes]
rs58263911	0.97[EUR][1000 genomes]
rs58599202	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61580118	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6464620	0.97[EUR][1000 genomes]
rs6943904	0.84[EUR][1000 genomes]
rs6944218	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73473567	0.82[EUR][1000 genomes]
rs73473571	0.89[EUR][1000 genomes]
rs73473582	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73473584	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7787388	0.97[EUR][1000 genomes]
rs7788443	0.90[EUR][1000 genomes]
rs7799803	0.94[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	nsv889247	chr7:139855216-140033631	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1015840	chr7:139912355-139987681	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:139937800-139944000	Enhancers	Fetal Intestine Small	intestine
2	chr7:139937800-139944200	Enhancers	Fetal Intestine Large	intestine
3	chr7:139939800-139953400	Weak transcription	Lung	lung
4	chr7:139941200-139944000	Weak transcription	Gastric	stomach
5	chr7:139941600-139944200	Enhancers	Primary B cells from peripheral blood	blood
6	chr7:139941800-139953400	Weak transcription	Small Intestine	intestine
7	chr7:139942000-139944800	Enhancers	Stomach Mucosa	stomach
8	chr7:139942600-139943800	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr7:139942600-139950600	Weak transcription	Placenta	Placenta
10	chr7:139942800-139944800	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr7:139942800-139947400	Weak transcription	Left Ventricle	heart
12	chr7:139943000-139944000	Enhancers	GM12878-XiMat	blood
13	chr7:139943000-139945600	Enhancers	K562	blood
14	chr7:139943400-139944000	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr7:139943600-139943800	Enhancers	Colonic Mucosa	Colon
16	chr7:139943600-139944800	Enhancers	Duodenum Mucosa	Duodenum
17	chr7:139943600-139944800	Enhancers	Rectal Mucosa Donor 29	rectum
18	chr7:139943600-139946600	Enhancers	HepG2	liver
19	chr7:139943600-139948400	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr7:139943600-139950600	Weak transcription	Primary neutrophils fromperipheralblood	blood

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