Variant report

Variant	rs11519725
Chromosome Location	chr12:105704579-105704580
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10861371	0.83[AMR][1000 genomes]
rs10861388	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861396	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112451	1.00[ASN][1000 genomes]
rs11112461	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112465	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11112467	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11112468	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11513891	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11613789	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12822081	0.83[AMR][1000 genomes]
rs12822314	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12827086	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12828874	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35225620	0.83[AMR][1000 genomes]
rs35407439	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35561158	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35801994	0.81[AMR][1000 genomes]
rs4545651	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7303242	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7303307	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7959385	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7972400	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7972676	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7972982	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899499	chr12:105616297-105722529	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv510589	chr12:105670071-105743755	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv3394212	chr12:105693734-105708035	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS	lncRNA	n/a	inside rSNPs	diseases
4	esv3358347	chr12:105693757-105707693	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105692200-105708000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr12:105695400-105708200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr12:105695800-105709200	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr12:105696200-105709400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:105701800-105709400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr12:105702600-105706200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:105702600-105709400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:105703600-105705200	Enhancers	Liver	Liver
9	chr12:105703600-105705200	Enhancers	Placenta Amnion	Placenta Amnion
10	chr12:105703600-105705400	Enhancers	A549	lung
11	chr12:105704000-105705400	Enhancers	Stomach Mucosa	stomach
12	chr12:105704000-105705800	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr12:105704000-105705800	Enhancers	Hela-S3	cervix
14	chr12:105704000-105706400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr12:105704200-105705200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr12:105704200-105705200	Enhancers	Aorta	Aorta
17	chr12:105704200-105705800	Enhancers	NHEK	skin
18	chr12:105704200-105706400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr12:105704200-105706400	Enhancers	Osteobl	bone
20	chr12:105704200-105711000	Weak transcription	Duodenum Mucosa	Duodenum
21	chr12:105704400-105705000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr12:105704400-105705800	Enhancers	HMEC	breast
23	chr12:105704400-105706400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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