Variant report

Variant	rs72559434
Chromosome Location	chr12:22089933-22089934
allele	A/G
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: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs7980353	1.00[AFR][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:21 , 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	chr12:22059400-22091800	Weak transcription	Liver	Liver
5	chr12:22060800-22092200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr12:22066600-22092000	Weak transcription	NHLF	lung
7	chr12:22071800-22092000	Weak transcription	Right Ventricle	heart
8	chr12:22075200-22090200	Weak transcription	Fetal Heart	heart
9	chr12:22083000-22092000	Weak transcription	Fetal Lung	lung
10	chr12:22083800-22091600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr12:22084600-22092000	Weak transcription	Fetal Kidney	kidney
12	chr12:22086000-22091600	Weak transcription	Adipose Nuclei	Adipose
13	chr12:22086200-22092600	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr12:22087800-22090400	Weak transcription	NHDF-Ad	bronchial
15	chr12:22087800-22093000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr12:22088200-22092400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr12:22089200-22090400	Weak transcription	Left Ventricle	heart
18	chr12:22089400-22090800	Weak transcription	Colon Smooth Muscle	Colon
19	chr12:22089400-22091600	Weak transcription	Stomach Smooth Muscle	stomach
20	chr12:22089600-22090200	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr12:22089600-22092200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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