Variant report

Variant	rs80110640
Chromosome Location	chr12:20756179-20756180
allele	C/T
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	nsv1048067	chr12:20363755-20874845	Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv541408	chr12:20363755-20874845	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1043890	chr12:20659151-21309993	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv541410	chr12:20659151-21309993	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv1054997	chr12:20682009-21292602	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv557702	chr12:20755626-20779078	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20752200-20766200	Weak transcription	Aorta	Aorta
2	chr12:20753600-20756200	Enhancers	Brain Hippocampus Middle	brain
3	chr12:20753800-20756200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:20754000-20756800	Enhancers	NHDF-Ad	bronchial
5	chr12:20754000-20766200	Weak transcription	Hela-S3	cervix
6	chr12:20754200-20756800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr12:20754200-20766200	Weak transcription	Right Ventricle	heart
8	chr12:20754400-20757800	Weak transcription	Colon Smooth Muscle	Colon
9	chr12:20754800-20756400	Enhancers	HUVEC	blood vessel
10	chr12:20754800-20756800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr12:20754800-20756800	Enhancers	Osteobl	bone
12	chr12:20755000-20756200	Enhancers	Fetal Stomach	stomach
13	chr12:20755000-20756800	Enhancers	NHLF	lung
14	chr12:20755200-20756200	Enhancers	Fetal Lung	lung
15	chr12:20755400-20756200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr12:20755400-20756200	Enhancers	Fetal Muscle Leg	muscle
17	chr12:20755400-20756800	Enhancers	NH-A	brain
18	chr12:20755400-20758200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr12:20755600-20756200	Enhancers	Stomach Mucosa	stomach
20	chr12:20755600-20756400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr12:20755600-20756400	Enhancers	Muscle Satellite Cultured Cells	--
22	chr12:20755600-20761000	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr12:20755600-20766200	Weak transcription	Fetal Intestine Large	intestine
24	chr12:20755800-20756200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr12:20755800-20761000	Weak transcription	Rectal Smooth Muscle	rectum
26	chr12:20756000-20756200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr12:20756000-20756200	Enhancers	Left Ventricle	heart
28	chr12:20756000-20756400	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr12:20756000-20756400	Flanking Active TSS	A549	lung

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