Variant report

Variant	rs114945203
Chromosome Location	chr12:59463759-59463760
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043385	chr12:59149582-59758952	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1067596	chr12:59167152-59764208	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv492251	chr12:59167152-59764208	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1047257	chr12:59444966-59520330	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1050662	chr12:59444966-59526442	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv3339712	chr12:59463695-59464194	Weak transcription Enhancers	n/a	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:59450000-59464000	Weak transcription	Hela-S3	cervix
2	chr12:59454400-59471200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:59461200-59464400	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr12:59461200-59464400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr12:59461400-59464200	Weak transcription	Fetal Kidney	kidney
6	chr12:59461400-59465600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr12:59461400-59468800	Weak transcription	Fetal Stomach	stomach
8	chr12:59461400-59469400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr12:59461800-59469000	Weak transcription	Fetal Intestine Small	intestine
10	chr12:59462200-59464000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:59462200-59464000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:59462200-59466400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr12:59463000-59464200	Enhancers	HUVEC	blood vessel
14	chr12:59463200-59464600	Enhancers	HMEC	breast
15	chr12:59463200-59464800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:59463200-59464800	Enhancers	NHEK	skin
17	chr12:59463200-59465200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr12:59463200-59465800	Enhancers	Osteobl	bone
19	chr12:59463200-59466000	Enhancers	NH-A	brain
20	chr12:59463400-59464600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr12:59463400-59464600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr12:59463400-59465800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr12:59463600-59464000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr12:59463600-59464200	Weak transcription	Pancreatic Islets	Pancreatic Islet

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