Variant report

Variant	rs575059957
Chromosome Location	chr12:22003766-22003767
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv557741	chr12:21578559-22169854	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1051073	chr12:21910875-22271209	Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv470275	chr12:21938544-22126314	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv1847099	chr12:22003544-22035425	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21973800-22025400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr12:21985400-22005000	Weak transcription	NHLF	lung
3	chr12:21985800-22004800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr12:21995600-22004400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr12:21995600-22022200	Weak transcription	Stomach Smooth Muscle	stomach
6	chr12:21995600-22034800	Weak transcription	Colon Smooth Muscle	Colon
7	chr12:21995800-22022600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr12:21997600-22016600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:21999200-22015400	Weak transcription	Fetal Muscle Leg	muscle
10	chr12:22001400-22011400	Weak transcription	Fetal Muscle Trunk	muscle
11	chr12:22002800-22003800	Enhancers	Fetal Lung	lung
12	chr12:22002800-22004000	Genic enhancers	Liver	Liver
13	chr12:22002800-22004000	Enhancers	Fetal Heart	heart
14	chr12:22003000-22003800	Genic enhancers	Skeletal Muscle Female	skeletal muscle
15	chr12:22003200-22004000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr12:22003400-22008600	Weak transcription	Pancreas	Pancrea
17	chr12:22003400-22014200	Weak transcription	Left Ventricle	heart
18	chr12:22003400-22015800	Weak transcription	Right Ventricle	heart
19	chr12:22003400-22026600	Weak transcription	Psoas Muscle	Psoas
20	chr12:22003600-22003800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr12:22003600-22014600	Weak transcription	Adipose Nuclei	Adipose
22	chr12:22003600-22022400	Weak transcription	Skeletal Muscle Male	skeletal muscle

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