Variant report

Variant	rs1283805
Chromosome Location	chr12:22050056-22050057
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10743426	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10770862	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10770863	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10770867	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10770870	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10770871	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11046224	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11046226	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11046227	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11046228	0.99[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11046229	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11046230	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11046235	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12366938	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12371738	0.85[EUR][1000 genomes]
rs12821892	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1283804	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1283806	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1344569	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1356370	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1421602	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1517276	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2138723	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2176394	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2193881	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2277405	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2418021	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2900493	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34243384	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34413975	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3759236	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4148650	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4148654	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4148655	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4148656	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4148657	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4148660	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4762722	0.84[EUR][1000 genomes]
rs59061211	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61921496	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7136887	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7137250	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7300572	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7972391	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7977434	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs870134	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs870135	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv898900	chr12:22044843-22083212	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv898901	chr12:22047174-22075960	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv898902	chr12:22047174-22083212	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:22035200-22058600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr12:22035200-22092200	Weak transcription	Fetal Muscle Leg	muscle
3	chr12:22041600-22050600	Weak transcription	Fetal Lung	lung
4	chr12:22045000-22059200	Weak transcription	Left Ventricle	heart
5	chr12:22045200-22053800	Weak transcription	Right Ventricle	heart
6	chr12:22045200-22058800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr12:22045400-22064800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr12:22045600-22053000	Weak transcription	Aorta	Aorta
9	chr12:22045600-22059200	Weak transcription	NHLF	lung
10	chr12:22045600-22064800	Weak transcription	Fetal Heart	heart
11	chr12:22046000-22059000	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr12:22047200-22058000	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr12:22047200-22058400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:22047800-22058400	Weak transcription	Stomach Smooth Muscle	stomach
15	chr12:22048000-22092000	Weak transcription	Psoas Muscle	Psoas
16	chr12:22048200-22054600	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr12:22048200-22058400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr12:22048400-22060000	Weak transcription	Adipose Nuclei	Adipose
19	chr12:22048400-22091600	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr12:22048600-22059200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr12:22049400-22061600	Weak transcription	Fetal Kidney	kidney
22	chr12:22049400-22088600	Weak transcription	Colon Smooth Muscle	Colon
23	chr12:22049600-22058800	Weak transcription	Liver	Liver

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