Variant report

Variant	rs572099199
Chromosome Location	chr12:42981965-42981966
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	chr12:42975394..42979509-chr12:42980340..42982880,4	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	nsv1044790	chr12:42672255-43344184	Enhancers Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
2	nsv541483	chr12:42672255-43344184	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
3	nsv832388	chr12:42878328-43087069	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv989438	chr12:42981066-42988699	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42979800-42982400	Weak transcription	Psoas Muscle	Psoas
2	chr12:42980000-42985000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr12:42980600-42984200	Active TSS	HSMMtube	muscle
4	chr12:42980800-42982000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:42980800-42982200	Flanking Active TSS	HMEC	breast
6	chr12:42980800-42982200	Flanking Active TSS	Osteobl	bone
7	chr12:42980800-42982600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr12:42980800-42984200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr12:42981000-42982200	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr12:42981000-42982200	Bivalent Enhancer	A549	lung
11	chr12:42981000-42984000	Active TSS	Brain Angular Gyrus	brain
12	chr12:42981000-42984000	Active TSS	Fetal Muscle Leg	muscle
13	chr12:42981200-42982000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr12:42981200-42982000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
15	chr12:42981200-42982000	Enhancers	Colon Smooth Muscle	Colon
16	chr12:42981200-42982200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
17	chr12:42981200-42982400	Flanking Active TSS	Stomach Smooth Muscle	stomach
18	chr12:42981200-42982600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
19	chr12:42981200-42983000	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr12:42981200-42983800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
21	chr12:42981200-42984000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr12:42981200-42985000	Active TSS	Right Atrium	heart
23	chr12:42981400-42982200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
24	chr12:42981400-42982200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr12:42981400-42982200	Flanking Active TSS	Fetal Lung	lung
26	chr12:42981400-42982400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
27	chr12:42981400-42982400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr12:42981400-42982400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
29	chr12:42981400-42982400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
30	chr12:42981400-42982400	Enhancers	Stomach Mucosa	stomach
31	chr12:42981400-42982600	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr12:42981400-42982600	Flanking Active TSS	NHEK	skin
33	chr12:42981400-42984000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr12:42981400-42984000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
35	chr12:42981400-42984200	Active TSS	Brain Anterior Caudate	brain
36	chr12:42981400-42984800	Active TSS	Right Ventricle	heart
37	chr12:42981600-42982000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr12:42981600-42982000	Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr12:42981600-42982200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
40	chr12:42981600-42982200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
41	chr12:42981600-42982400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr12:42981600-42982400	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
43	chr12:42981600-42982400	Weak transcription	Lung	lung
44	chr12:42981600-42982800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr12:42981600-42982800	Active TSS	Fetal Muscle Trunk	muscle
46	chr12:42981600-42982800	Active TSS	Fetal Stomach	stomach
47	chr12:42981600-42983000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr12:42981600-42983200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr12:42981600-42983200	Active TSS	Fetal Heart	heart
50	chr12:42981600-42983200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle

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