Variant report

Variant	rs546619117
Chromosome Location	chr5:52631618-52631619
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949005	chr5:52188028-52808229	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv2752745	chr5:52422063-53343529	Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv830297	chr5:52492494-52707758	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1020388	chr5:52607736-52637122	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
5	nsv1016368	chr5:52607736-52640986	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
6	nsv1027244	chr5:52631507-52644776	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52620200-52633600	Weak transcription	Esophagus	oesophagus
2	chr5:52626000-52640000	Enhancers	HMEC	breast
3	chr5:52626400-52631800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr5:52629200-52632000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr5:52629600-52632000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr5:52629600-52634000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr5:52630000-52633800	Enhancers	NHEK	skin
8	chr5:52630800-52631800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:52631200-52633800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr5:52631400-52633800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:52631400-52634600	Weak transcription	Aorta	Aorta
12	chr5:52631600-52633400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr5:52631600-52633400	Weak transcription	NHDF-Ad	bronchial
14	chr5:52631600-52633600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr5:52631600-52633600	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr5:52631600-52633600	Weak transcription	NHLF	lung
17	chr5:52631600-52634800	Weak transcription	Hela-S3	cervix
18	chr5:52631600-52635600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr5:52631600-52635800	Weak transcription	Osteobl	bone
20	chr5:52631600-52639000	Weak transcription	HSMM	muscle

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