Variant report

Variant	rs67389537
Chromosome Location	chr2:233807161-233807162
allele	C/G
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]
rs1980168	0.92[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs1980169	0.95[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs1996342	0.88[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2102788	0.88[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs4973576	0.95[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs58660411	0.82[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs62191832	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs709935	0.92[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs709936	0.92[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs72976151	0.83[EUR][1000 genomes]
rs73102745	0.93[ASN][1000 genomes]
rs778344	0.90[ASN][1000 genomes]
rs778345	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs778346	0.94[ASN][1000 genomes]
rs778347	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs778348	0.87[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs778350	0.95[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs778352	0.95[AFR][1000 genomes];0.89[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	nsv948470	chr2:233166262-233886732	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1005123	chr2:233227729-233920152	Enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv536173	chr2:233227729-233920152	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	esv3377192	chr2:233758324-233835472	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv1014548	chr2:233777859-233816018	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv876009	chr2:233799400-233996429	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv876010	chr2:233801356-233839052	Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233794400-233835800	Weak transcription	Pancreas	Pancrea
2	chr2:233802600-233837200	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr2:233805800-233813800	Weak transcription	HepG2	liver
4	chr2:233806400-233807200	Enhancers	HMEC	breast
5	chr2:233806400-233807200	Enhancers	NHEK	skin
6	chr2:233806600-233807200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:233806600-233807200	Strong transcription	Duodenum Mucosa	Duodenum
8	chr2:233806600-233807200	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
9	chr2:233806800-233807200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:233806800-233807200	ZNF genes & repeats	Fetal Intestine Small	intestine
11	chr2:233807000-233807400	Strong transcription	Liver	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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