Variant report

Variant	rs12273513
Chromosome Location	chr11:70864839-70864840
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:70862325..70865050-chr11:70958475..70960987,2	MCF-7	breast:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10897725	0.93[EUR][1000 genomes]
rs10897726	0.93[EUR][1000 genomes]
rs11232300	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11232301	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11232304	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11232305	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12271307	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12272223	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12273863	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12274896	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12282822	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12289383	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12295667	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28811899	0.80[EUR][1000 genomes]
rs28876818	0.81[EUR][1000 genomes]
rs34402475	0.85[EUR][1000 genomes]
rs4245462	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4304805	0.93[EUR][1000 genomes]
rs4334036	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4348928	0.81[EUR][1000 genomes]
rs4424695	0.87[EUR][1000 genomes]
rs4944245	0.93[EUR][1000 genomes]
rs55664123	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55988920	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56144630	0.87[EUR][1000 genomes]
rs56181437	0.85[EUR][1000 genomes]
rs56291131	0.84[EUR][1000 genomes]
rs56393668	0.82[EUR][1000 genomes]
rs59052115	0.82[EUR][1000 genomes]
rs60079515	0.82[EUR][1000 genomes]
rs61582992	0.84[EUR][1000 genomes]
rs7107858	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7116150	0.81[EUR][1000 genomes]
rs7123898	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7125114	0.85[EUR][1000 genomes]
rs72957115	0.80[EUR][1000 genomes]
rs72959507	0.83[EUR][1000 genomes]
rs72959509	0.88[EUR][1000 genomes]
rs72959517	0.85[EUR][1000 genomes]
rs72959521	0.85[EUR][1000 genomes]
rs72959524	0.84[EUR][1000 genomes]
rs7932968	0.91[EUR][1000 genomes]
rs7933736	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7933912	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7945968	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7949824	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7950101	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9888167	0.87[EUR][1000 genomes]
rs9888173	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9888203	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9888294	0.82[EUR][1000 genomes]
rs9888299	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[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	nsv1048123	chr11:70795222-71231382	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:70858200-70891000	Weak transcription	Gastric	stomach
2	chr11:70858600-70865400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:70863600-70865600	Enhancers	H1 Cell Line	embryonic stem cell
4	chr11:70863600-70865600	Enhancers	Placenta	Placenta
5	chr11:70863800-70865200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr11:70864000-70865200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr11:70864200-70865400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:70864400-70865000	Enhancers	Fetal Kidney	kidney
9	chr11:70864400-70865200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr11:70864400-70865200	Weak transcription	Pancreas	Pancrea
11	chr11:70864400-70865800	Flanking Active TSS	Liver	Liver
12	chr11:70864600-70865000	Enhancers	Duodenum Mucosa	Duodenum
13	chr11:70864600-70865200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr11:70864600-70865200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr11:70864600-70865400	Enhancers	Brain Hippocampus Middle	brain
16	chr11:70864600-70865400	Enhancers	Fetal Intestine Small	intestine
17	chr11:70864600-70865400	Enhancers	A549	lung
18	chr11:70864600-70865600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr11:70864600-70866800	Weak transcription	Fetal Intestine Large	intestine
20	chr11:70864600-70866800	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr11:70864600-70867400	Weak transcription	HSMMtube	muscle
22	chr11:70864600-70874800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr11:70864600-70886000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr11:70864800-70865600	Enhancers	Hela-S3	cervix
25	chr11:70864800-70865600	Flanking Active TSS	HepG2	liver

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