Variant report

Variant	rs73393869
Chromosome Location	chr12:105467256-105467257
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs1882148	1.00[EUR][1000 genomes]
rs3763991	1.00[EUR][1000 genomes]
rs57393988	1.00[EUR][1000 genomes]
rs57448746	1.00[EUR][1000 genomes]
rs57456392	1.00[EUR][1000 genomes]
rs57618699	1.00[EUR][1000 genomes]
rs58301361	1.00[EUR][1000 genomes]
rs58969183	1.00[EUR][1000 genomes]
rs59143432	1.00[EUR][1000 genomes]
rs59811168	1.00[EUR][1000 genomes]
rs59840770	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59935781	1.00[EUR][1000 genomes]
rs59955900	1.00[EUR][1000 genomes]
rs60167837	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60230439	1.00[EUR][1000 genomes]
rs60294187	1.00[EUR][1000 genomes]
rs60495600	1.00[EUR][1000 genomes]
rs60725801	1.00[EUR][1000 genomes]
rs61042175	1.00[EUR][1000 genomes]
rs61336075	1.00[EUR][1000 genomes]
rs61437377	1.00[EUR][1000 genomes]
rs7294681	1.00[EUR][1000 genomes]
rs7297845	1.00[EUR][1000 genomes]
rs7304175	1.00[EUR][1000 genomes]
rs7307834	1.00[EUR][1000 genomes]
rs7314155	1.00[EUR][1000 genomes]
rs73393833	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73393835	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73393837	1.00[EUR][1000 genomes]
rs73393841	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73393842	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73393866	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73393881	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73393882	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73393894	0.97[ASN][1000 genomes]
rs73395723	1.00[EUR][1000 genomes]
rs73395740	1.00[EUR][1000 genomes]
rs73395744	1.00[EUR][1000 genomes]
rs73395745	1.00[EUR][1000 genomes]
rs73395746	1.00[EUR][1000 genomes]
rs73395758	1.00[EUR][1000 genomes]
rs73395770	1.00[EUR][1000 genomes]
rs73395771	1.00[EUR][1000 genomes]
rs73395772	1.00[EUR][1000 genomes]
rs73395783	1.00[EUR][1000 genomes]
rs73395785	1.00[EUR][1000 genomes]
rs73397621	1.00[EUR][1000 genomes]
rs73397624	1.00[EUR][1000 genomes]
rs73397654	1.00[EUR][1000 genomes]
rs73397655	1.00[EUR][1000 genomes]
rs73397656	1.00[EUR][1000 genomes]
rs73397659	1.00[EUR][1000 genomes]
rs73397660	1.00[EUR][1000 genomes]
rs73397661	1.00[EUR][1000 genomes]
rs73397663	1.00[EUR][1000 genomes]
rs73397672	1.00[EUR][1000 genomes]
rs73397677	1.00[EUR][1000 genomes]
rs73397678	1.00[EUR][1000 genomes]
rs73397680	1.00[EUR][1000 genomes]
rs73397683	1.00[EUR][1000 genomes]
rs73397685	1.00[EUR][1000 genomes]
rs73397687	1.00[EUR][1000 genomes]
rs73397688	1.00[EUR][1000 genomes]
rs73397690	1.00[EUR][1000 genomes]
rs73397700	1.00[EUR][1000 genomes]
rs73397701	1.00[EUR][1000 genomes]
rs73399708	1.00[EUR][1000 genomes]
rs73399717	1.00[EUR][1000 genomes]
rs73399720	1.00[EUR][1000 genomes]
rs73399724	1.00[EUR][1000 genomes]
rs73399728	1.00[EUR][1000 genomes]
rs73399730	1.00[EUR][1000 genomes]
rs7959931	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[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	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv832505	chr12:105315352-105497765	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	esv1010041	chr12:105459777-105467603	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
4	nsv832506	chr12:105461274-105637561	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105413000-105476800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:105420000-105477000	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr12:105435600-105467400	Weak transcription	Brain Substantia Nigra	brain
4	chr12:105441200-105477000	Weak transcription	Gastric	stomach
5	chr12:105442400-105469800	Weak transcription	Fetal Lung	lung
6	chr12:105445800-105472800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr12:105447000-105468000	Weak transcription	K562	blood
8	chr12:105447000-105468600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr12:105447200-105477200	Weak transcription	Brain Hippocampus Middle	brain
10	chr12:105449400-105476800	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr12:105450800-105468200	Weak transcription	Brain Anterior Caudate	brain
12	chr12:105453400-105476800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr12:105454200-105476600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr12:105455600-105467800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr12:105455600-105476400	Weak transcription	Fetal Brain Male	brain
16	chr12:105456000-105477000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr12:105456400-105475000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr12:105456600-105475200	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr12:105456800-105467400	Weak transcription	Fetal Stomach	stomach
20	chr12:105456800-105471200	Weak transcription	Pancreas	Pancrea
21	chr12:105456800-105476800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr12:105460400-105476600	Weak transcription	Adipose Nuclei	Adipose
23	chr12:105460400-105476600	Weak transcription	Fetal Brain Female	brain
24	chr12:105460600-105476600	Weak transcription	Brain Germinal Matrix	brain
25	chr12:105461800-105468000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr12:105462000-105467800	Strong transcription	Osteobl	bone
27	chr12:105462600-105467800	Strong transcription	HSMMtube	muscle
28	chr12:105462800-105468000	Strong transcription	HSMM	muscle
29	chr12:105463000-105467800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr12:105463400-105467800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr12:105464400-105476600	Weak transcription	Stomach Smooth Muscle	stomach
32	chr12:105464600-105475800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr12:105464600-105476200	Weak transcription	NHLF	lung
34	chr12:105464600-105477000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr12:105464600-105477000	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr12:105465000-105467800	Strong transcription	Fetal Muscle Trunk	muscle
37	chr12:105465200-105470000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr12:105465200-105476400	Weak transcription	NHDF-Ad	bronchial
39	chr12:105465400-105476800	Weak transcription	Fetal Muscle Leg	muscle
40	chr12:105466000-105467400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr12:105466200-105467400	Enhancers	GM12878-XiMat	blood
42	chr12:105466200-105467800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr12:105466200-105467800	Strong transcription	NH-A	brain
44	chr12:105466200-105468400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr12:105466400-105468000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr12:105466800-105467800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr12:105466800-105467800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr12:105466800-105467800	Strong transcription	Brain Angular Gyrus	brain
49	chr12:105466800-105468600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr12:105467000-105467400	Strong transcription	Brain Inferior Temporal Lobe	brain

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