Variant report

Variant	rs73277834
Chromosome Location	chr12:42928125-42928126
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12311369	1.00[EUR][1000 genomes]
rs12313351	1.00[EUR][1000 genomes]
rs12315374	1.00[EUR][1000 genomes]
rs12317555	1.00[EUR][1000 genomes]
rs12317568	1.00[EUR][1000 genomes]
rs12319896	1.00[EUR][1000 genomes]
rs55898220	1.00[EUR][1000 genomes]
rs73275835	1.00[EUR][1000 genomes]
rs73275837	1.00[EUR][1000 genomes]
rs73275845	1.00[EUR][1000 genomes]
rs73275847	1.00[EUR][1000 genomes]
rs73277836	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73277838	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73277841	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73277843	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73279705	1.00[EUR][1000 genomes]
rs74080115	1.00[EUR][1000 genomes]
rs74080120	1.00[EUR][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	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
4	nsv1036522	chr12:42926075-42961887	Weak transcription Bivalent/Poised TSS Genic enhancers Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	Chromatin interactive region	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	chr12:42898400-42929000	Weak transcription	Fetal Kidney	kidney
2	chr12:42901600-42940200	Weak transcription	Ovary	ovary
3	chr12:42910800-42942000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr12:42911200-42941800	Weak transcription	Fetal Muscle Leg	muscle
5	chr12:42913800-42957600	Weak transcription	HMEC	breast
6	chr12:42914000-42940800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:42914400-42952600	Weak transcription	Aorta	Aorta
8	chr12:42914600-42954800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:42919000-42942400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr12:42919200-42933600	Weak transcription	HSMMtube	muscle
11	chr12:42919200-42935400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:42919600-42941000	Weak transcription	NH-A	brain
13	chr12:42919800-42929400	Weak transcription	HUVEC	blood vessel
14	chr12:42921000-42939800	Weak transcription	HSMM	muscle
15	chr12:42923800-42943200	Weak transcription	Fetal Stomach	stomach
16	chr12:42925800-42938600	Weak transcription	Osteobl	bone
17	chr12:42926400-42940400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr12:42927200-42930400	Enhancers	Fetal Heart	heart
19	chr12:42927600-42928200	Enhancers	Spleen	Spleen
20	chr12:42928000-42928800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr12:42928000-42929000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr12:42928000-42929400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr12:42928000-42929600	Enhancers	Left Ventricle	heart

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