Variant report

Variant	rs2056193
Chromosome Location	chr12:43155775-43155776
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs12227600	0.88[ASN][1000 genomes]
rs1878577	0.80[EUR][1000 genomes]
rs1878579	0.80[EUR][1000 genomes]
rs1878580	0.80[EUR][1000 genomes]
rs2138862	0.95[ASN][1000 genomes]
rs2407112	0.80[EUR][1000 genomes]
rs2459738	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2459739	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2459740	0.90[ASN][1000 genomes]
rs2459743	0.88[ASN][1000 genomes]
rs2678104	0.80[EUR][1000 genomes]
rs2678105	0.80[EUR][1000 genomes]
rs2678108	0.80[EUR][1000 genomes]
rs2678109	0.80[EUR][1000 genomes]
rs2678110	0.82[EUR][1000 genomes]
rs2678111	0.82[EUR][1000 genomes]
rs2678112	0.82[EUR][1000 genomes]
rs2678113	0.82[EUR][1000 genomes]
rs2678114	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2678115	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2678116	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2678117	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2678118	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2678119	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2678148	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2678152	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2730966	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2730991	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2731000	0.95[ASN][1000 genomes]
rs2731005	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2731007	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2731008	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2731010	0.82[EUR][1000 genomes]
rs2731015	0.82[EUR][1000 genomes]
rs2731016	0.82[EUR][1000 genomes]
rs2731017	0.80[EUR][1000 genomes]
rs35204519	0.82[EUR][1000 genomes]
rs73130905	0.89[ASN][1000 genomes]
rs975540	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044790	chr12:42672255-43344184	Enhancers Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
2	nsv541483	chr12:42672255-43344184	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
3	nsv832389	chr12:43003361-43173896	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:43149600-43156400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:43149800-43156600	Enhancers	HMEC	breast
3	chr12:43153000-43156800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr12:43153200-43156600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr12:43153200-43156600	Enhancers	Osteobl	bone
6	chr12:43153400-43156200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr12:43153600-43156000	Enhancers	Hela-S3	cervix
8	chr12:43153800-43156600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr12:43153800-43161800	Weak transcription	Pancreas	Pancrea
10	chr12:43154800-43155800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr12:43154800-43156000	Weak transcription	Ovary	ovary
12	chr12:43155000-43156400	Enhancers	Fetal Heart	heart
13	chr12:43155000-43156600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr12:43155200-43162000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr12:43155200-43162800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr12:43155400-43156400	Enhancers	Adipose Nuclei	Adipose
17	chr12:43155400-43157800	Enhancers	GM12878-XiMat	blood
18	chr12:43155600-43155800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr12:43155600-43155800	Enhancers	Muscle Satellite Cultured Cells	--
20	chr12:43155600-43155800	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr12:43155600-43156200	Enhancers	Fetal Muscle Leg	muscle
22	chr12:43155600-43156400	Enhancers	Rectal Smooth Muscle	rectum
23	chr12:43155600-43156400	Enhancers	HSMM	muscle
24	chr12:43155600-43156600	Enhancers	Fetal Brain Female	brain

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