Variant report

Variant	rs74070306
Chromosome Location	chr12:21973011-21973012
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs58158490	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60270881	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61001398	1.00[AMR][1000 genomes]
rs7133945	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7137855	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74070304	0.84[AFR][1000 genomes];1.00[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:33 , 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	chr12:21955800-21973600	Weak transcription	Right Ventricle	heart
4	chr12:21958200-21981200	Weak transcription	Fetal Muscle Leg	muscle
5	chr12:21958400-21980000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr12:21958400-22003000	Weak transcription	Psoas Muscle	Psoas
7	chr12:21968800-21978800	Weak transcription	Adipose Nuclei	Adipose
8	chr12:21968800-21978800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr12:21970400-21973200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr12:21970600-21974200	Enhancers	Liver	Liver
11	chr12:21971000-21973600	Enhancers	Fetal Heart	heart
12	chr12:21971000-21981200	Weak transcription	Left Ventricle	heart
13	chr12:21971200-21975800	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr12:21971600-21973200	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr12:21971600-21973200	Enhancers	NHDF-Ad	bronchial
16	chr12:21971600-21973800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr12:21971600-21974000	Enhancers	Colon Smooth Muscle	Colon
18	chr12:21971800-21973400	Enhancers	Muscle Satellite Cultured Cells	--
19	chr12:21971800-21973800	Enhancers	Fetal Intestine Large	intestine
20	chr12:21972000-21973200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:21972200-21973800	Enhancers	Fetal Intestine Small	intestine
22	chr12:21972200-21973800	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr12:21972400-21973400	Enhancers	Rectal Smooth Muscle	rectum
24	chr12:21972400-21976200	Weak transcription	NHLF	lung
25	chr12:21972600-21976000	Weak transcription	Fetal Stomach	stomach
26	chr12:21972600-21976400	Weak transcription	Ovary	ovary
27	chr12:21972800-21975400	Weak transcription	Fetal Kidney	kidney
28	chr12:21972800-21975800	Weak transcription	Fetal Lung	lung
29	chr12:21973000-21973400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr12:21973000-21973400	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr12:21973000-21975800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr12:21973000-21976400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr12:21973000-21976400	Weak transcription	Osteobl	bone

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