Variant report

Variant	rs66602040
Chromosome Location	chr1:223816322-223816323
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10915972	0.81[AMR][1000 genomes]
rs2186009	0.81[AMR][1000 genomes]
rs34016563	0.92[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs34187970	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34486763	0.87[ASN][1000 genomes]
rs34786756	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs35250293	0.88[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4075735	0.92[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs61825168	0.86[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs61825172	0.92[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs61825173	0.87[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs61825209	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61825210	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61825211	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61825220	0.83[AMR][1000 genomes]
rs66612973	0.86[AFR][1000 genomes];0.97[ASN][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	nsv832681	chr1:223698048-224002691	Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv873209	chr1:223707647-223846564	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv873210	chr1:223707647-223856414	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv873211	chr1:223707647-223867631	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	esv3361888	chr1:223725597-224114846	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv1000199	chr1:223803545-223854859	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv873212	chr1:223807262-223853792	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223802800-223821000	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr1:223806200-223816400	Weak transcription	Lung	lung
3	chr1:223808600-223825000	Weak transcription	Gastric	stomach
4	chr1:223809600-223827600	Weak transcription	Colonic Mucosa	Colon
5	chr1:223812200-223819400	Weak transcription	Stomach Mucosa	stomach
6	chr1:223815600-223817400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr1:223815800-223820400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr1:223816000-223816600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr1:223816000-223816600	Enhancers	Ovary	ovary
10	chr1:223816200-223816400	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:223816200-223816600	Enhancers	A549	lung
12	chr1:223816200-223817000	Bivalent Enhancer	HepG2	liver
13	chr1:223816200-223820600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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

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