Variant report

Variant	rs56178300
Chromosome Location	chr12:21977137-21977138
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:62607619..62609220-chr12:21976585..21978105,2	K562	blood:
2	chr12:21976585..21978105-chr17:41380641..41383388,2	K562	blood:

Variant related genes	Relation type
ENSG00000133316	Chromatin interaction
ENSG00000236383	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1283809	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1283810	0.88[AMR][1000 genomes]
rs1283811	0.85[AMR][1000 genomes]
rs1283812	0.88[AMR][1000 genomes]
rs1873638	0.91[AMR][1000 genomes]
rs2161062	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs829074	0.82[AMR][1000 genomes]

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	nsv1043936	chr12:21562673-21979030	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21953800-21981000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr12:21954400-21980600	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr12:21958200-21981200	Weak transcription	Fetal Muscle Leg	muscle
4	chr12:21958400-21980000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr12:21958400-22003000	Weak transcription	Psoas Muscle	Psoas
6	chr12:21968800-21978800	Weak transcription	Adipose Nuclei	Adipose
7	chr12:21968800-21978800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr12:21971000-21981200	Weak transcription	Left Ventricle	heart
9	chr12:21973800-21994800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:21973800-22025400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr12:21974000-21979600	Weak transcription	Fetal Heart	heart
12	chr12:21974000-21980800	Weak transcription	Colon Smooth Muscle	Colon
13	chr12:21976200-21984400	Weak transcription	Fetal Kidney	kidney
14	chr12:21976400-21981200	Weak transcription	NHLF	lung
15	chr12:21976600-21978800	Weak transcription	Fetal Lung	lung
16	chr12:21976800-21977200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr12:21976800-21977800	Enhancers	Liver	Liver
18	chr12:21976800-21978800	Weak transcription	Ovary	ovary
19	chr12:21976800-21978800	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr12:21976800-21979600	Weak transcription	Fetal Stomach	stomach
21	chr12:21976800-21981000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr12:21976800-21981000	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr12:21976800-21981200	Weak transcription	NHDF-Ad	bronchial
24	chr12:21976800-21981600	Weak transcription	Aorta	Aorta
25	chr12:21977000-21977200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr12:21977000-21980800	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr12:21977000-21981200	Weak transcription	Osteobl	bone

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