Variant report

Variant	rs55862073
Chromosome Location	chr1:62773332-62773333
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs17123437	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59712922	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv1004446	chr1:62394631-62813533	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
2	nsv534984	chr1:62394631-62813533	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1009398	chr1:62656660-62780644	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1013582	chr1:62723703-62910632	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases
5	nsv871893	chr1:62767953-62819067	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv871250	chr1:62769887-62799451	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 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	chr1:62754400-62773400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:62767600-62780600	Weak transcription	HepG2	liver
3	chr1:62768000-62773600	Weak transcription	Fetal Stomach	stomach
4	chr1:62768000-62776800	Weak transcription	Fetal Kidney	kidney
5	chr1:62770800-62775600	Weak transcription	Gastric	stomach
6	chr1:62772400-62776000	Enhancers	Pancreas	Pancrea
7	chr1:62772600-62774400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:62772600-62776400	Enhancers	HMEC	breast
9	chr1:62772600-62776600	Enhancers	Placenta	Placenta
10	chr1:62772800-62776200	Enhancers	Adipose Nuclei	Adipose
11	chr1:62773200-62773400	Enhancers	Fetal Lung	lung
12	chr1:62773200-62773400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
13	chr1:62773200-62773600	Enhancers	Hela-S3	cervix
14	chr1:62773200-62774200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:62773200-62774400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
16	chr1:62773200-62774600	Enhancers	Fetal Muscle Leg	muscle
17	chr1:62773200-62774800	Enhancers	Fetal Muscle Trunk	muscle
18	chr1:62773200-62776000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr1:62773200-62776200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:62773200-62776200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:62773200-62776200	Enhancers	NHEK	skin
22	chr1:62773200-62778600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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