Variant report

Variant	rs572694416
Chromosome Location	chr2:47089377-47089378
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	chr2:47084849..47086981-chr2:47087555..47090038,3	K562	blood:
2	chr2:47088613..47092145-chr2:47092514..47095025,5	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
5	nsv979000	chr2:47088519-47093944	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47080800-47103600	Enhancers	Placenta	Placenta
2	chr2:47081400-47091000	Enhancers	NHDF-Ad	bronchial
3	chr2:47084000-47093200	Weak transcription	Ovary	ovary
4	chr2:47084000-47093600	Weak transcription	Right Atrium	heart
5	chr2:47085000-47090400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:47085800-47089400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:47086000-47091200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:47086200-47089400	Weak transcription	A549	lung
9	chr2:47086800-47090400	Weak transcription	HSMMtube	muscle
10	chr2:47087600-47091600	Enhancers	Fetal Lung	lung
11	chr2:47087800-47097400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr2:47088200-47089400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr2:47088200-47089400	Bivalent Enhancer	Fetal Stomach	stomach
14	chr2:47088400-47090200	Enhancers	Left Ventricle	heart
15	chr2:47088400-47091400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:47088600-47090000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:47088600-47090200	Enhancers	Stomach Smooth Muscle	stomach
18	chr2:47088600-47090600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr2:47088600-47092000	Enhancers	Fetal Muscle Leg	muscle
20	chr2:47088800-47089400	Enhancers	Adipose Nuclei	Adipose
21	chr2:47088800-47089600	Enhancers	Right Ventricle	heart
22	chr2:47088800-47089800	Enhancers	Colon Smooth Muscle	Colon
23	chr2:47088800-47089800	Enhancers	Fetal Kidney	kidney
24	chr2:47088800-47089800	Enhancers	Fetal Muscle Trunk	muscle
25	chr2:47088800-47090000	Enhancers	Osteobl	bone
26	chr2:47088800-47090400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:47088800-47091200	Weak transcription	Spleen	Spleen
28	chr2:47088800-47091400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr2:47089000-47089800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr2:47089000-47090000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:47089000-47090000	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr2:47089200-47090000	Enhancers	NHLF	lung
33	chr2:47089200-47092000	Weak transcription	Colonic Mucosa	Colon
34	chr2:47089200-47096800	Weak transcription	Skeletal Muscle Male	skeletal muscle

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