Variant report

Variant	rs73277820
Chromosome Location	chr12:42917176-42917177
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:42911189..42915377-chr12:42915920..42919957,5	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs11829039	1.00[EUR][1000 genomes]
rs11830386	1.00[EUR][1000 genomes]
rs11831464	1.00[EUR][1000 genomes]
rs11832196	1.00[EUR][1000 genomes]
rs11832840	1.00[EUR][1000 genomes]
rs11833011	1.00[EUR][1000 genomes]
rs11833109	1.00[EUR][1000 genomes]
rs11833381	1.00[EUR][1000 genomes]
rs11834665	1.00[EUR][1000 genomes]
rs11837839	1.00[EUR][1000 genomes]
rs2406968	1.00[EUR][1000 genomes]
rs2678127	1.00[EUR][1000 genomes]
rs2730978	1.00[EUR][1000 genomes]
rs2730987	1.00[EUR][1000 genomes]
rs2730988	1.00[EUR][1000 genomes]
rs2730990	1.00[EUR][1000 genomes]
rs2730992	1.00[EUR][1000 genomes]
rs4290298	1.00[EUR][1000 genomes]
rs56414128	1.00[EUR][1000 genomes]
rs56691329	1.00[EUR][1000 genomes]
rs57490344	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57647260	1.00[EUR][1000 genomes]
rs57955254	1.00[EUR][1000 genomes]
rs58229270	1.00[EUR][1000 genomes]
rs58676357	1.00[EUR][1000 genomes]
rs59190545	1.00[EUR][1000 genomes]
rs59577937	1.00[EUR][1000 genomes]
rs59645146	1.00[EUR][1000 genomes]
rs60314019	1.00[EUR][1000 genomes]
rs60982601	1.00[EUR][1000 genomes]
rs61067658	1.00[EUR][1000 genomes]
rs7299386	1.00[EUR][1000 genomes]
rs73270269	1.00[EUR][1000 genomes]
rs73270275	1.00[EUR][1000 genomes]
rs73270279	1.00[EUR][1000 genomes]
rs73270293	1.00[EUR][1000 genomes]
rs73272004	1.00[EUR][1000 genomes]
rs73272008	1.00[EUR][1000 genomes]
rs73272013	1.00[EUR][1000 genomes]
rs73272046	1.00[EUR][1000 genomes]
rs73272047	1.00[EUR][1000 genomes]
rs73272050	1.00[EUR][1000 genomes]
rs73272072	1.00[EUR][1000 genomes]
rs73272073	1.00[EUR][1000 genomes]
rs73272080	1.00[EUR][1000 genomes]
rs73272091	1.00[EUR][1000 genomes]
rs73272101	1.00[EUR][1000 genomes]
rs73273911	1.00[EUR][1000 genomes]
rs73273932	1.00[EUR][1000 genomes]
rs73273975	1.00[EUR][1000 genomes]
rs73285662	1.00[EUR][1000 genomes]
rs73285670	1.00[EUR][1000 genomes]
rs74080157	1.00[EUR][1000 genomes]
rs74080160	1.00[EUR][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	nsv832388	chr12:42878328-43087069	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42898400-42929000	Weak transcription	Fetal Kidney	kidney
2	chr12:42901600-42940200	Weak transcription	Ovary	ovary
3	chr12:42903400-42917800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr12:42903400-42917800	Weak transcription	HSMMtube	muscle
5	chr12:42909000-42918800	Weak transcription	Lung	lung
6	chr12:42910800-42918200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr12:42910800-42918400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr12:42910800-42918600	Weak transcription	Fetal Stomach	stomach
9	chr12:42910800-42942000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr12:42911200-42941800	Weak transcription	Fetal Muscle Leg	muscle
11	chr12:42913000-42917200	Weak transcription	Fetal Heart	heart
12	chr12:42913800-42957600	Weak transcription	HMEC	breast
13	chr12:42914000-42940800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr12:42914400-42917400	Weak transcription	Osteobl	bone
15	chr12:42914400-42952600	Weak transcription	Aorta	Aorta
16	chr12:42914600-42918600	Weak transcription	NH-A	brain
17	chr12:42914600-42954800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr12:42914800-42917200	Weak transcription	HSMM	muscle
19	chr12:42915000-42917400	Weak transcription	HUVEC	blood vessel
20	chr12:42915000-42928000	Weak transcription	Left Ventricle	heart
21	chr12:42916600-42920600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr12:42917000-42919200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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