Variant report

Variant	rs71530933
Chromosome Location	chr12:22086938-22086939
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:22085812..22088348-chr12:22089764..22092154,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11608658	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11613635	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11615310	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17335932	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4586220	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58759846	0.83[AMR][1000 genomes]
rs74067858	0.83[AMR][1000 genomes]
rs74067859	0.83[AMR][1000 genomes]
rs74067864	0.83[AMR][1000 genomes]
rs74067881	0.83[AMR][1000 genomes]
rs74067885	0.83[AMR][1000 genomes]
rs74067888	0.83[AMR][1000 genomes]
rs74067890	1.00[EUR][1000 genomes];1.00[ASN][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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:22035200-22092200	Weak transcription	Fetal Muscle Leg	muscle
2	chr12:22048000-22092000	Weak transcription	Psoas Muscle	Psoas
3	chr12:22048400-22091600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr12:22049400-22088600	Weak transcription	Colon Smooth Muscle	Colon
5	chr12:22059400-22091800	Weak transcription	Liver	Liver
6	chr12:22060800-22092200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr12:22066600-22092000	Weak transcription	NHLF	lung
8	chr12:22067800-22087000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr12:22071800-22092000	Weak transcription	Right Ventricle	heart
10	chr12:22075200-22090200	Weak transcription	Fetal Heart	heart
11	chr12:22080000-22088800	Weak transcription	Left Ventricle	heart
12	chr12:22083000-22092000	Weak transcription	Fetal Lung	lung
13	chr12:22083800-22091600	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr12:22084600-22092000	Weak transcription	Fetal Kidney	kidney
15	chr12:22085400-22087200	Strong transcription	Skeletal Muscle Female	skeletal muscle
16	chr12:22085600-22087200	Strong transcription	Stomach Smooth Muscle	stomach
17	chr12:22086000-22087800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:22086000-22091600	Weak transcription	Adipose Nuclei	Adipose
19	chr12:22086200-22092600	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr12:22086600-22087000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr12:22086600-22087800	Enhancers	NHDF-Ad	bronchial
22	chr12:22086600-22088200	Enhancers	Muscle Satellite Cultured Cells	--
23	chr12:22086800-22087200	Enhancers	Osteobl	bone

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