Variant report

Variant	rs640041
Chromosome Location	chr1:47219126-47219127
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs2099765	0.90[ASN][1000 genomes]
rs28704792	0.92[ASN][1000 genomes]
rs56149431	0.85[ASN][1000 genomes]
rs594387	0.83[EUR][1000 genomes]
rs607945	0.83[EUR][1000 genomes]
rs627437	0.95[ASN][1000 genomes]
rs658210	0.83[EUR][1000 genomes]
rs6675437	0.88[ASN][1000 genomes]
rs694194	0.83[EUR][1000 genomes]
rs720413	0.94[ASN][1000 genomes]

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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47215200-47226000	Weak transcription	Lung	lung
2	chr1:47216000-47219400	Weak transcription	Fetal Intestine Large	intestine
3	chr1:47216200-47219400	Weak transcription	Fetal Intestine Small	intestine
4	chr1:47216400-47219600	Weak transcription	Duodenum Mucosa	Duodenum
5	chr1:47216600-47221600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr1:47218200-47222800	Enhancers	NHEK	skin
7	chr1:47218400-47219400	Weak transcription	Placenta	Placenta
8	chr1:47218400-47220000	Weak transcription	Pancreas	Pancrea
9	chr1:47218600-47219600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:47218600-47219800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:47218600-47219800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:47218600-47219800	Weak transcription	HMEC	breast
13	chr1:47218600-47219800	Weak transcription	HUVEC	blood vessel
14	chr1:47218600-47220800	Weak transcription	Esophagus	oesophagus
15	chr1:47218800-47219200	Weak transcription	Adipose Nuclei	Adipose
16	chr1:47219000-47219400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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

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