Variant report

Variant	rs10801137
Chromosome Location	chr1:192599836-192599837
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10801138	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10921223	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10921225	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12046733	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12123475	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4287157	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6657887	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6658382	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6698108	0.90[EUR][1000 genomes]
rs9287123	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9287124	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv467005	chr1:192549912-192625360	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv548659	chr1:192549912-192625360	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	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	chr1:192596200-192602200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:192596400-192601800	Weak transcription	Fetal Intestine Large	intestine
3	chr1:192597000-192605600	Enhancers	Fetal Lung	lung
4	chr1:192597800-192600000	Enhancers	Adipose Nuclei	Adipose
5	chr1:192597800-192602600	Enhancers	Liver	Liver
6	chr1:192598000-192602000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr1:192598800-192600000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:192598800-192603200	Weak transcription	Right Ventricle	heart
9	chr1:192599000-192602200	Weak transcription	Fetal Heart	heart
10	chr1:192599000-192608200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:192599600-192601000	Enhancers	Stomach Mucosa	stomach
12	chr1:192599800-192600200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr1:192599800-192600200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:192599800-192600600	Enhancers	Pancreas	Pancrea
15	chr1:192599800-192600800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:192599800-192600800	Enhancers	HepG2	liver

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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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