Variant report

Variant	rs531745411
Chromosome Location	chr7:80253838-80253839
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv888524	chr7:80107798-80723062	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv831043	chr7:80119414-80322092	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv948605	chr7:80119690-80298887	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1020682	chr7:80120651-80297697	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv464606	chr7:80177084-80311794	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv607682	chr7:80177084-80311794	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
7	nsv1025144	chr7:80197286-80271841	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1026688	chr7:80231657-80307236	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
9	nsv1020745	chr7:80231657-80309495	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
10	nsv888526	chr7:80240943-80354229	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
11	nsv888527	chr7:80248029-80279460	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv888528	chr7:80252518-80280117	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv888529	chr7:80252518-80295701	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80246800-80254000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr7:80251200-80255800	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr7:80251800-80260000	Weak transcription	Right Ventricle	heart
4	chr7:80252000-80260000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr7:80252400-80254400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr7:80253000-80254200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr7:80253000-80254200	Enhancers	Left Ventricle	heart
8	chr7:80253000-80254800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr7:80253200-80254000	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr7:80253200-80254400	Enhancers	Psoas Muscle	Psoas
11	chr7:80253400-80254000	Flanking Active TSS	Fetal Heart	heart
12	chr7:80253400-80256200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr7:80253400-80256200	Weak transcription	NHDF-Ad	bronchial
14	chr7:80253400-80259400	Weak transcription	Fetal Lung	lung
15	chr7:80253600-80254400	Weak transcription	Right Atrium	heart
16	chr7:80253600-80255000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:80253600-80256000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:80253600-80256000	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr7:80253600-80256200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr7:80253600-80256200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr7:80253600-80256200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr7:80253800-80254600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr7:80253800-80254800	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr7:80253800-80254800	Enhancers	HepG2	liver
25	chr7:80253800-80255600	Enhancers	Adipose Nuclei	Adipose

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