Variant report

Variant	rs542706377
Chromosome Location	chr12:50720052-50720053
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899075	chr12:50594947-50835060	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers 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	56 gene(s)	inside rSNPs	diseases
2	esv2761738	chr12:50627292-50836427	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
3	nsv1035796	chr12:50634342-50784312	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv1053667	chr12:50679039-50801752	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	nsv1054480	chr12:50691039-50859665	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
6	nsv1041563	chr12:50705715-50861699	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv1049665	chr12:50705715-50871542	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS 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	30 gene(s)	inside rSNPs	diseases
8	esv2762979	chr12:50719438-50736171	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50693600-50722800	Weak transcription	Fetal Intestine Small	intestine
2	chr12:50707400-50720400	Weak transcription	Stomach Mucosa	stomach
3	chr12:50717800-50720400	Weak transcription	Brain Angular Gyrus	brain
4	chr12:50719400-50720400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr12:50719600-50720200	Enhancers	Duodenum Mucosa	Duodenum
6	chr12:50719600-50721600	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr12:50719800-50720400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:50719800-50720600	Flanking Active TSS	Liver	Liver
9	chr12:50719800-50720600	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr12:50719800-50721000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr12:50719800-50721000	Enhancers	Adipose Nuclei	Adipose
12	chr12:50719800-50721000	Enhancers	Colonic Mucosa	Colon
13	chr12:50719800-50721000	Enhancers	Fetal Intestine Large	intestine
14	chr12:50719800-50721000	Enhancers	Pancreas	Pancrea
15	chr12:50719800-50721000	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr12:50719800-50721000	Enhancers	HepG2	liver
17	chr12:50719800-50721200	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr12:50719800-50721200	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr12:50719800-50721200	Flanking Active TSS	A549	lung
20	chr12:50719800-50721400	Enhancers	Muscle Satellite Cultured Cells	--
21	chr12:50719800-50721600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr12:50720000-50720200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr12:50720000-50720200	Enhancers	Esophagus	oesophagus
24	chr12:50720000-50720200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
25	chr12:50720000-50720400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr12:50720000-50720400	Enhancers	Osteobl	bone
27	chr12:50720000-50720600	Enhancers	Aorta	Aorta
28	chr12:50720000-50720800	Enhancers	Fetal Lung	lung
29	chr12:50720000-50720800	Flanking Active TSS	Hela-S3	cervix
30	chr12:50720000-50721200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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