Variant report

Variant	rs572423926
Chromosome Location	chr13:111037048-111037049
allele	-/CCAAG
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:111035825..111038178-chr13:111040396..111042030,2	K562	blood:

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	nsv1038914	chr13:110860219-111190104	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1046423	chr13:110936104-111286607	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	esv3447880	chr13:111035851-111040549	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111024400-111040200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr13:111024800-111039400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr13:111031000-111038400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr13:111031000-111039800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr13:111031600-111040200	Weak transcription	Aorta	Aorta
6	chr13:111032600-111037600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr13:111032600-111037600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr13:111032600-111040200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr13:111033200-111039600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr13:111033200-111039800	Weak transcription	Fetal Lung	lung
11	chr13:111033200-111040200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr13:111033400-111037800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr13:111033600-111037600	Weak transcription	Pancreas	Pancrea
14	chr13:111033600-111039800	Weak transcription	Spleen	Spleen
15	chr13:111033800-111039800	Weak transcription	Right Atrium	heart
16	chr13:111034000-111041200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr13:111034200-111037200	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr13:111034200-111039800	Weak transcription	Ovary	ovary
19	chr13:111034400-111039600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr13:111034400-111039600	Weak transcription	Adipose Nuclei	Adipose
21	chr13:111034600-111039600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr13:111034600-111039600	Weak transcription	NHDF-Ad	bronchial
23	chr13:111034800-111039800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr13:111034800-111040200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr13:111035200-111037800	Weak transcription	Osteobl	bone
26	chr13:111035400-111037600	Weak transcription	NH-A	brain
27	chr13:111035400-111037600	Weak transcription	NHLF	lung
28	chr13:111035600-111037200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr13:111035600-111037200	Enhancers	Fetal Heart	heart
30	chr13:111035800-111037800	Weak transcription	HSMM	muscle
31	chr13:111036000-111037200	Genic enhancers	Fetal Muscle Trunk	muscle
32	chr13:111036000-111037200	Genic enhancers	Fetal Muscle Leg	muscle
33	chr13:111036000-111037800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr13:111036200-111037200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr13:111036200-111037200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr13:111036200-111037200	Enhancers	Right Ventricle	heart
37	chr13:111036200-111037200	Strong transcription	NHEK	skin
38	chr13:111036200-111037400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr13:111036400-111037800	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr13:111036600-111037200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr13:111036600-111037200	Enhancers	Colon Smooth Muscle	Colon
42	chr13:111036600-111037200	Strong transcription	Fetal Intestine Small	intestine
43	chr13:111036600-111037200	Enhancers	Left Ventricle	heart
44	chr13:111036800-111037200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr13:111036800-111037200	Strong transcription	Fetal Stomach	stomach
46	chr13:111036800-111037200	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr13:111036800-111038400	Weak transcription	Fetal Kidney	kidney
48	chr13:111037000-111037200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr13:111037000-111037200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr13:111037000-111037200	Enhancers	Gastric	stomach

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