Variant report

Variant	rs545253059
Chromosome Location	chr12:76080046-76080047
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	nsv1036987	chr12:75415532-76101559	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1040583	chr12:75742802-76360276	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv948653	chr12:75773464-76220618	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv899314	chr12:76079814-76110751	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 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	chr12:76076200-76098400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:76077000-76081800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr12:76079000-76081000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr12:76079000-76081000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:76079000-76093600	Weak transcription	Psoas Muscle	Psoas
6	chr12:76079200-76083800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr12:76079200-76084200	Weak transcription	K562	blood
8	chr12:76079400-76083800	Weak transcription	HSMM	muscle
9	chr12:76079400-76084000	Weak transcription	Fetal Stomach	stomach
10	chr12:76079400-76099800	Weak transcription	Right Atrium	heart
11	chr12:76079600-76083200	Weak transcription	HMEC	breast
12	chr12:76079600-76083800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr12:76079600-76083800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr12:76079800-76080800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr12:76079800-76083200	Weak transcription	NHLF	lung
16	chr12:76079800-76083800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr12:76079800-76083800	Weak transcription	NH-A	brain
18	chr12:76079800-76083800	Weak transcription	Osteobl	bone
19	chr12:76080000-76080400	Weak transcription	NHDF-Ad	bronchial
20	chr12:76080000-76083600	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr12:76080000-76083600	Weak transcription	NHEK	skin
22	chr12:76080000-76084200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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