Variant report

Variant	rs57249325
Chromosome Location	chr7:101435506-101435507
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11974028	1.00[ASN][1000 genomes]
rs11980902	1.00[ASN][1000 genomes]
rs2906736	0.88[EUR][1000 genomes]
rs2906737	0.95[EUR][1000 genomes]
rs2906738	0.97[EUR][1000 genomes]
rs2906739	0.97[EUR][1000 genomes]
rs2949324	0.97[EUR][1000 genomes]
rs2949325	0.97[EUR][1000 genomes]
rs2949326	0.97[EUR][1000 genomes]
rs2949327	0.97[EUR][1000 genomes]
rs2949329	0.88[EUR][1000 genomes]
rs2970475	0.97[EUR][1000 genomes]
rs2970476	0.93[EUR][1000 genomes]
rs55818034	1.00[ASN][1000 genomes]
rs56343746	1.00[ASN][1000 genomes]
rs57730474	0.97[EUR][1000 genomes]
rs62463713	1.00[ASN][1000 genomes]
rs6975182	0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933653	chr7:100701931-101515782	Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv831079	chr7:101273495-101466776	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv1021797	chr7:101342353-101466957	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	nsv539046	chr7:101342353-101466957	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv1024319	chr7:101368299-101668159	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
6	nsv539047	chr7:101368299-101668159	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
7	nsv1020372	chr7:101420819-101718950	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101420000-101436600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:101435000-101436200	Enhancers	Fetal Heart	heart
3	chr7:101435200-101435600	Enhancers	Hela-S3	cervix
4	chr7:101435200-101435800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:101435200-101436000	Enhancers	Muscle Satellite Cultured Cells	--
6	chr7:101435200-101436200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:101435200-101436400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr7:101435200-101436400	Enhancers	HSMMtube	muscle
9	chr7:101435200-101436600	Enhancers	Placenta	Placenta
10	chr7:101435400-101435800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr7:101435400-101435800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:101435400-101435800	Enhancers	Adipose Nuclei	Adipose
13	chr7:101435400-101435800	Active TSS	NHEK	skin
14	chr7:101435400-101436000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr7:101435400-101436000	Enhancers	Osteobl	bone

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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