Variant report

Variant	rs552348347
Chromosome Location	chr12:118866571-118866572
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	nsv1053785	chr12:118490955-118874194	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv899547	chr12:118791441-118896304	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv930978	chr12:118866332-119450600	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118853400-118867600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:118854000-118870800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:118854400-118867600	Weak transcription	Gastric	stomach
4	chr12:118854600-118866800	Weak transcription	Aorta	Aorta
5	chr12:118854600-118867600	Weak transcription	Ovary	ovary
6	chr12:118854600-118870800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr12:118854600-118874400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr12:118854800-118867600	Weak transcription	Psoas Muscle	Psoas
9	chr12:118854800-118870600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr12:118854800-118874400	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr12:118855000-118867000	Weak transcription	Liver	Liver
12	chr12:118855000-118867600	Weak transcription	Lung	lung
13	chr12:118855000-118867600	Weak transcription	Small Intestine	intestine
14	chr12:118855200-118866600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr12:118855200-118868200	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr12:118855200-118870000	Weak transcription	Brain Hippocampus Middle	brain
17	chr12:118855200-118874200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:118856600-118867600	Weak transcription	Pancreas	Pancrea
19	chr12:118856600-118868200	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr12:118856800-118866600	Weak transcription	Adipose Nuclei	Adipose
21	chr12:118856800-118868400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr12:118857000-118874400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr12:118857400-118869000	Weak transcription	Primary T cells from cord blood	blood
24	chr12:118857400-118870600	Weak transcription	Duodenum Mucosa	Duodenum
25	chr12:118864400-118867400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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