Variant report

Variant	rs34272122
Chromosome Location	chr1:223810933-223810934
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs34127408	0.82[ASN][1000 genomes]
rs34160961	0.82[ASN][1000 genomes]
rs34518501	0.81[EUR][1000 genomes]
rs34537618	0.81[EUR][1000 genomes]
rs34580160	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35189569	0.80[EUR][1000 genomes]
rs35568612	0.81[EUR][1000 genomes]
rs35600877	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36080106	0.81[EUR][1000 genomes]
rs61825170	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61825175	0.81[EUR][1000 genomes]
rs61825177	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61825180	0.81[EUR][1000 genomes]
rs61825181	0.80[EUR][1000 genomes]
rs61825187	0.85[EUR][1000 genomes]
rs61825212	0.82[ASN][1000 genomes]
rs61825213	0.82[ASN][1000 genomes]
rs73119712	0.86[AMR][1000 genomes];0.85[EUR][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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223796800-223811800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:223799400-223815400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr1:223802800-223821000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr1:223806200-223816400	Weak transcription	Lung	lung
5	chr1:223806400-223811800	Weak transcription	Fetal Stomach	stomach
6	chr1:223808600-223825000	Weak transcription	Gastric	stomach
7	chr1:223809600-223827600	Weak transcription	Colonic Mucosa	Colon
8	chr1:223810200-223811400	Flanking Active TSS	Liver	Liver
9	chr1:223810200-223812200	Enhancers	Stomach Mucosa	stomach
10	chr1:223810600-223815000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr1:223810800-223811000	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr1:223810800-223811400	Enhancers	HepG2	liver

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

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