Variant report

Variant	rs720413
Chromosome Location	chr1:47219823-47219824
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs2099765	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2165315	0.80[ASN][1000 genomes]
rs2165316	0.80[ASN][1000 genomes]
rs28704792	0.93[ASN][1000 genomes]
rs56149431	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs627437	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs640041	0.94[ASN][1000 genomes]
rs6675437	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs986034	0.93[CHB][hapmap];0.82[CHD][hapmap];0.81[JPT][hapmap]

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	nsv1001455	chr1:46828004-47326539	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv534950	chr1:46828004-47326539	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1013048	chr1:47132831-47377364	Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv534955	chr1:47132831-47377364	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	esv1801614	chr1:47211670-47220059	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv1827846	chr1:47211670-47220059	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47215200-47226000	Weak transcription	Lung	lung
2	chr1:47216600-47221600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:47218200-47222800	Enhancers	NHEK	skin
4	chr1:47218400-47220000	Weak transcription	Pancreas	Pancrea
5	chr1:47218600-47220800	Weak transcription	Esophagus	oesophagus
6	chr1:47219200-47220200	Enhancers	Adipose Nuclei	Adipose
7	chr1:47219400-47222000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:47219400-47224600	Enhancers	Placenta	Placenta
9	chr1:47219400-47225600	Enhancers	Fetal Intestine Small	intestine
10	chr1:47219400-47231600	Enhancers	Fetal Intestine Large	intestine
11	chr1:47219600-47222000	Enhancers	Duodenum Mucosa	Duodenum
12	chr1:47219600-47223200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:47219800-47220000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:47219800-47220200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:47219800-47221000	Enhancers	HUVEC	blood vessel
16	chr1:47219800-47223000	Enhancers	HMEC	breast
17	chr1:47219800-47224600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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