Variant report

Variant	rs2193881
Chromosome Location	chr12:22057399-22057400
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10743426	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10770862	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10770863	0.88[EUR][1000 genomes]
rs10770867	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10770870	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10770871	0.82[AFR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11046224	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11046226	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11046227	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11046228	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11046229	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11046230	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11046235	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12366938	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12371738	0.86[EUR][1000 genomes]
rs12821892	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1283804	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1283805	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1283806	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1344569	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1356370	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1421602	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1517276	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2138723	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2176394	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2277405	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2418021	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2900493	0.80[AFR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34243384	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34413975	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3759236	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4148650	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4148654	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4148655	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4148656	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4148657	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4148660	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4762722	0.84[EUR][1000 genomes]
rs59061211	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61921496	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7136887	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7137250	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7300572	0.82[AFR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7972391	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7977434	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs870134	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs870135	0.85[AFR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
7	nsv557754	chr12:22051089-22072257	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 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	chr12:22045000-22059200	Weak transcription	Left Ventricle	heart
4	chr12:22045200-22058800	Weak transcription	Fetal Muscle Trunk	muscle
5	chr12:22045400-22064800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr12:22045600-22059200	Weak transcription	NHLF	lung
7	chr12:22045600-22064800	Weak transcription	Fetal Heart	heart
8	chr12:22046000-22059000	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr12:22047200-22058000	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr12:22047200-22058400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:22047800-22058400	Weak transcription	Stomach Smooth Muscle	stomach
12	chr12:22048000-22092000	Weak transcription	Psoas Muscle	Psoas
13	chr12:22048200-22058400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr12:22048400-22060000	Weak transcription	Adipose Nuclei	Adipose
15	chr12:22048400-22091600	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr12:22048600-22059200	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr12:22049400-22061600	Weak transcription	Fetal Kidney	kidney
18	chr12:22049400-22088600	Weak transcription	Colon Smooth Muscle	Colon
19	chr12:22049600-22058800	Weak transcription	Liver	Liver
20	chr12:22052600-22060000	Weak transcription	Fetal Lung	lung

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