Variant report

Variant	rs562239525
Chromosome Location	chr12:22045527-22045528
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:22044149..22046273-chr12:22050074..22052072,2	K562	blood:

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:22027600-22046200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:22035200-22058600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:22035200-22092200	Weak transcription	Fetal Muscle Leg	muscle
4	chr12:22041600-22050600	Weak transcription	Fetal Lung	lung
5	chr12:22044000-22045600	Enhancers	Fetal Stomach	stomach
6	chr12:22044000-22045800	Flanking Active TSS	Liver	Liver
7	chr12:22044000-22047200	Enhancers	Rectal Smooth Muscle	rectum
8	chr12:22044400-22045600	Enhancers	Ovary	ovary
9	chr12:22044400-22046000	Enhancers	Adipose Nuclei	Adipose
10	chr12:22044400-22046000	Enhancers	Duodenum Smooth Muscle	Duodenum
11	chr12:22044400-22048400	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr12:22044600-22045600	Enhancers	Fetal Heart	heart
13	chr12:22044600-22045800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr12:22044800-22045600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr12:22044800-22045600	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr12:22044800-22049400	Enhancers	Colon Smooth Muscle	Colon
17	chr12:22045000-22045600	Enhancers	Brain Anterior Caudate	brain
18	chr12:22045000-22046800	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr12:22045000-22059200	Weak transcription	Left Ventricle	heart
20	chr12:22045200-22047800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr12:22045200-22053800	Weak transcription	Right Ventricle	heart
22	chr12:22045200-22058800	Weak transcription	Fetal Muscle Trunk	muscle
23	chr12:22045400-22045600	Enhancers	Aorta	Aorta
24	chr12:22045400-22045600	Enhancers	Psoas Muscle	Psoas
25	chr12:22045400-22045600	Flanking Active TSS	Right Atrium	heart
26	chr12:22045400-22045600	Flanking Active TSS	Stomach Smooth Muscle	stomach
27	chr12:22045400-22045600	Enhancers	NHLF	lung
28	chr12:22045400-22064800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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