Variant report

Variant	rs1283818
Chromosome Location	chr12:21985293-21985294
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10770864	1.00[AMR][1000 genomes]
rs10770865	1.00[AMR][1000 genomes]
rs10841913	1.00[AMR][1000 genomes]
rs11836605	1.00[AMR][1000 genomes]
rs1283796	1.00[AMR][1000 genomes]
rs1283803	1.00[AMR][1000 genomes]
rs1650272	1.00[AMR][1000 genomes]
rs1650311	1.00[AMR][1000 genomes]
rs1677075	1.00[AMR][1000 genomes]
rs1677080	1.00[AMR][1000 genomes]
rs1677081	1.00[AMR][1000 genomes]
rs1677090	1.00[AMR][1000 genomes]
rs1677124	1.00[AMR][1000 genomes]
rs1677129	1.00[AMR][1000 genomes]
rs1677134	1.00[AMR][1000 genomes]
rs1677140	1.00[AMR][1000 genomes]
rs2544443	1.00[AMR][1000 genomes]
rs4762718	1.00[AMR][1000 genomes]
rs60507695	1.00[AMR][1000 genomes]
rs60867568	1.00[AMR][1000 genomes]
rs704199	1.00[AMR][1000 genomes]
rs704200	1.00[AMR][1000 genomes]
rs704201	1.00[AMR][1000 genomes]
rs704204	1.00[AMR][1000 genomes]
rs704207	1.00[AMR][1000 genomes]
rs704213	1.00[AMR][1000 genomes]
rs704214	1.00[AMR][1000 genomes]
rs704216	1.00[AMR][1000 genomes]
rs704218	1.00[AMR][1000 genomes]
rs73249205	1.00[AMR][1000 genomes]
rs73258133	1.00[AMR][1000 genomes]
rs73260142	1.00[AMR][1000 genomes]
rs73260149	1.00[AMR][1000 genomes]
rs73262354	1.00[AMR][1000 genomes]
rs73262383	1.00[AMR][1000 genomes]
rs73262391	1.00[AMR][1000 genomes]
rs73262395	1.00[AMR][1000 genomes]
rs73266378	1.00[AMR][1000 genomes]
rs73266381	1.00[AMR][1000 genomes]
rs759933	1.00[AMR][1000 genomes]
rs7975476	1.00[AMR][1000 genomes]
rs7979299	1.00[AMR][1000 genomes]
rs829067	1.00[AMR][1000 genomes]
rs829071	0.97[AFR][1000 genomes];1.00[AMR][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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21958400-22003000	Weak transcription	Psoas Muscle	Psoas
2	chr12:21973800-21994800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:21973800-22025400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:21980600-22002800	Weak transcription	Fetal Heart	heart
5	chr12:21981800-21991000	Weak transcription	Fetal Muscle Trunk	muscle
6	chr12:21982000-21989200	Weak transcription	Left Ventricle	heart
7	chr12:21982000-21989400	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr12:21983600-21985400	Enhancers	Fetal Stomach	stomach
9	chr12:21983600-21985400	Enhancers	Ovary	ovary
10	chr12:21983600-22002800	Strong transcription	Liver	Liver
11	chr12:21983800-22002000	Strong transcription	Skeletal Muscle Female	skeletal muscle
12	chr12:21983800-22003000	Weak transcription	Pancreas	Pancrea
13	chr12:21984200-21985400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr12:21984200-21985400	Enhancers	NHLF	lung
15	chr12:21984200-21985600	Enhancers	Adipose Nuclei	Adipose
16	chr12:21984200-21985600	Enhancers	Fetal Lung	lung
17	chr12:21984400-21985400	Enhancers	NHDF-Ad	bronchial
18	chr12:21984400-21985600	Enhancers	Osteobl	bone
19	chr12:21984600-21985800	Enhancers	Muscle Satellite Cultured Cells	--
20	chr12:21984800-21985400	Enhancers	Stomach Smooth Muscle	stomach
21	chr12:21984800-21985800	Enhancers	Colon Smooth Muscle	Colon
22	chr12:21984800-21988400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr12:21984800-21991400	Weak transcription	Fetal Muscle Leg	muscle
24	chr12:21984800-21994200	Weak transcription	Fetal Kidney	kidney
25	chr12:21984800-21995000	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr12:21985000-21985400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr12:21985000-22003000	Weak transcription	Right Ventricle	heart
28	chr12:21985200-21985400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr12:21985200-21985800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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