Variant report

Variant	rs704176
Chromosome Location	chr12:21992124-21992125
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12825295	0.82[AMR][1000 genomes]
rs1283815	0.86[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs1283816	1.00[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];0.87[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1283817	1.00[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1283822	0.95[CHB][hapmap];0.85[JPT][hapmap];0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1299731	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1967534	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2098574	0.86[AMR][1000 genomes]
rs3782667	0.82[CEU][hapmap];0.86[AMR][1000 genomes]
rs704175	0.89[CEU][hapmap];0.93[AMR][1000 genomes]
rs704177	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs704178	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs704180	1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs704182	1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7966849	0.86[CHB][hapmap]
rs829068	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs829069	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs829072	0.85[AMR][1000 genomes]
rs829079	0.95[CHB][hapmap];0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs829080	1.00[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs864360	0.86[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:25 , 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	chr12:21983600-22002800	Strong transcription	Liver	Liver
6	chr12:21983800-22002000	Strong transcription	Skeletal Muscle Female	skeletal muscle
7	chr12:21983800-22003000	Weak transcription	Pancreas	Pancrea
8	chr12:21984800-21994200	Weak transcription	Fetal Kidney	kidney
9	chr12:21984800-21995000	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr12:21985000-22003000	Weak transcription	Right Ventricle	heart
11	chr12:21985400-21993400	Weak transcription	Fetal Stomach	stomach
12	chr12:21985400-21995200	Weak transcription	Ovary	ovary
13	chr12:21985400-21996600	Weak transcription	NHDF-Ad	bronchial
14	chr12:21985400-22005000	Weak transcription	NHLF	lung
15	chr12:21985600-21994800	Weak transcription	Adipose Nuclei	Adipose
16	chr12:21985600-22002800	Weak transcription	Fetal Lung	lung
17	chr12:21985800-21994800	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr12:21985800-22004800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr12:21989000-21994800	Weak transcription	Stomach Smooth Muscle	stomach
20	chr12:21989200-21992200	Strong transcription	Left Ventricle	heart
21	chr12:21989400-21992400	Strong transcription	Skeletal Muscle Male	skeletal muscle
22	chr12:21990200-21995000	Weak transcription	Colon Smooth Muscle	Colon
23	chr12:21991600-21994600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:21991800-21992600	Weak transcription	Fetal Muscle Leg	muscle
25	chr12:21991800-21995200	Weak transcription	Fetal Muscle Trunk	muscle

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