Variant report

Variant	rs544616380
Chromosome Location	chr7:127859017-127859018
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127858029..127859044-chr7:127962044..127962840,5	MCF-7	breast:
2	chr7:127854529..127856623-chr7:127857622..127859528,2	MCF-7	breast:
3	chr7:127857539..127859442-chr7:127980846..127983357,2	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	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	esv33413	chr7:127800064-127929303	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
4	nsv5945	chr7:127852004-127880768	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv429811	chr7:127857891-127889049	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127844000-127875600	Weak transcription	Right Atrium	heart
2	chr7:127850000-127867400	Weak transcription	Spleen	Spleen
3	chr7:127856000-127863600	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr7:127857400-127862200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:127857800-127860000	Enhancers	HMEC	breast
6	chr7:127858000-127861800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:127858400-127860400	Enhancers	HSMM	muscle
8	chr7:127858400-127860600	Enhancers	HSMMtube	muscle
9	chr7:127858400-127860800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:127858400-127861200	Weak transcription	Hela-S3	cervix
11	chr7:127858400-127861400	Weak transcription	NHLF	lung
12	chr7:127858400-127861800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr7:127858600-127859200	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr7:127858600-127860200	Enhancers	Muscle Satellite Cultured Cells	--
15	chr7:127858600-127861400	Weak transcription	Placenta	Placenta
16	chr7:127858600-127861400	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr7:127858800-127861400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr7:127858800-127861600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr7:127858800-127861600	Weak transcription	Adipose Nuclei	Adipose
20	chr7:127858800-127861600	Weak transcription	Osteobl	bone
21	chr7:127859000-127859400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr7:127859000-127861400	Weak transcription	NHDF-Ad	bronchial

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