Variant report

Variant	rs557992931
Chromosome Location	chr12:50719916-50719917
allele	A/G
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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50693600-50722800	Weak transcription	Fetal Intestine Small	intestine
2	chr12:50706400-50720000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr12:50707400-50720000	Weak transcription	Osteobl	bone
4	chr12:50707400-50720400	Weak transcription	Stomach Mucosa	stomach
5	chr12:50716200-50720000	Weak transcription	Fetal Lung	lung
6	chr12:50717800-50720400	Weak transcription	Brain Angular Gyrus	brain
7	chr12:50719400-50720000	Enhancers	Hela-S3	cervix
8	chr12:50719400-50720400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr12:50719600-50720200	Enhancers	Duodenum Mucosa	Duodenum
10	chr12:50719600-50721600	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr12:50719800-50720000	Enhancers	Rectal Mucosa Donor 29	rectum
12	chr12:50719800-50720400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr12:50719800-50720600	Flanking Active TSS	Liver	Liver
14	chr12:50719800-50720600	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr12:50719800-50721000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr12:50719800-50721000	Enhancers	Adipose Nuclei	Adipose
17	chr12:50719800-50721000	Enhancers	Colonic Mucosa	Colon
18	chr12:50719800-50721000	Enhancers	Fetal Intestine Large	intestine
19	chr12:50719800-50721000	Enhancers	Pancreas	Pancrea
20	chr12:50719800-50721000	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr12:50719800-50721000	Enhancers	HepG2	liver
22	chr12:50719800-50721200	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr12:50719800-50721200	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr12:50719800-50721200	Flanking Active TSS	A549	lung
25	chr12:50719800-50721400	Enhancers	Muscle Satellite Cultured Cells	--
26	chr12:50719800-50721600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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