Variant report

Variant	rs1430783
Chromosome Location	chr2:67875004-67875005
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:67866969..67869436-chr2:67874841..67877617,2	MCF-7	breast:
2	chr2:67874220..67875030-chr2:83707240..83708163,2	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12476893	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1430784	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17034087	0.87[ASN][1000 genomes]
rs1897182	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1897183	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1897184	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2902028	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58185557	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72621575	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72621576	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72621577	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72621578	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72621579	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72621580	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72621581	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72621582	0.90[ASN][1000 genomes]
rs72621584	0.90[ASN][1000 genomes]
rs972901	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][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	nsv534389	chr2:67388428-68225338	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	nsv1007345	chr2:67870225-67980094	Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Weak transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:67866800-67884200	Weak transcription	Aorta	Aorta
2	chr2:67872400-67876200	Weak transcription	Colon Smooth Muscle	Colon
3	chr2:67872800-67875600	Weak transcription	Fetal Lung	lung
4	chr2:67872800-67876800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:67873200-67876400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr2:67873200-67877000	Weak transcription	Gastric	stomach
7	chr2:67873600-67877000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr2:67873800-67877000	Weak transcription	Right Ventricle	heart
9	chr2:67874000-67875800	Weak transcription	Fetal Heart	heart
10	chr2:67874000-67876200	Weak transcription	Left Ventricle	heart
11	chr2:67874000-67876200	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr2:67874000-67876400	Weak transcription	Stomach Smooth Muscle	stomach
13	chr2:67874000-67876800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:67874200-67876200	Weak transcription	Right Atrium	heart
15	chr2:67874400-67875200	Weak transcription	Hela-S3	cervix
16	chr2:67874400-67876200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr2:67874400-67876200	Weak transcription	Pancreas	Pancrea
18	chr2:67874800-67876800	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr2:67875000-67875400	Weak transcription	Psoas Muscle	Psoas
20	chr2:67875000-67877200	Enhancers	Fetal Kidney	kidney
21	chr2:67875000-67878400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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