Variant report

Variant	rs74070309
Chromosome Location	chr12:21979192-21979193
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs3741842	1.00[AFR][1000 genomes]
rs55794995	0.87[AFR][1000 genomes]
rs59266655	0.87[AFR][1000 genomes]
rs59299764	1.00[AFR][1000 genomes]
rs74067810	0.87[AFR][1000 genomes]
rs74067812	0.87[AFR][1000 genomes]
rs74067860	0.87[AFR][1000 genomes]
rs74069162	0.87[AFR][1000 genomes]
rs74069171	0.87[AFR][1000 genomes]
rs74069784	1.00[AFR][1000 genomes]
rs74070310	1.00[AFR][1000 genomes]
rs74070311	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:28 , 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	chr12:21971000-21981200	Weak transcription	Left Ventricle	heart
7	chr12:21973800-21994800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:21973800-22025400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:21974000-21979600	Weak transcription	Fetal Heart	heart
10	chr12:21974000-21980800	Weak transcription	Colon Smooth Muscle	Colon
11	chr12:21976200-21984400	Weak transcription	Fetal Kidney	kidney
12	chr12:21976400-21981200	Weak transcription	NHLF	lung
13	chr12:21976800-21979600	Weak transcription	Fetal Stomach	stomach
14	chr12:21976800-21981000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr12:21976800-21981000	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr12:21976800-21981200	Weak transcription	NHDF-Ad	bronchial
17	chr12:21976800-21981600	Weak transcription	Aorta	Aorta
18	chr12:21977000-21980800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr12:21977000-21981200	Weak transcription	Osteobl	bone
20	chr12:21977200-21980200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr12:21978800-21979200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr12:21978800-21981000	Enhancers	Liver	Liver
23	chr12:21978800-21981200	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr12:21978800-21981200	Strong transcription	Skeletal Muscle Female	skeletal muscle
25	chr12:21978800-21981400	Enhancers	Ovary	ovary
26	chr12:21978800-21981600	Enhancers	Fetal Lung	lung
27	chr12:21978800-21982600	Enhancers	Adipose Nuclei	Adipose
28	chr12:21979000-21979800	Weak transcription	Rectal Smooth Muscle	rectum

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