Variant report

Variant	rs11680040
Chromosome Location	chr2:211485187-211485188
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10176085	0.98[ASN][1000 genomes]
rs11684318	0.82[EUR][1000 genomes]
rs11685945	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12468557	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12694205	0.82[ASN][1000 genomes]
rs12694206	0.82[ASN][1000 genomes]
rs13401425	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2371005	0.82[ASN][1000 genomes]
rs2371006	0.82[ASN][1000 genomes]
rs4614865	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6750325	0.82[ASN][1000 genomes]
rs7568329	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7587701	0.82[ASN][1000 genomes]
rs7587791	0.82[ASN][1000 genomes]
rs7588072	0.82[EUR][1000 genomes]
rs7607205	0.98[ASN][1000 genomes]
rs7607412	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9288418	0.82[EUR][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	esv3398091	chr2:211315261-211634200	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1013658	chr2:211447246-211809945	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv536135	chr2:211447246-211809945	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr2:211471800-211494000	Weak transcription	Fetal Intestine Small	intestine
2	chr2:211482200-211485200	Strong transcription	Hela-S3	cervix
3	chr2:211483200-211485200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:211483200-211486600	Strong transcription	Duodenum Mucosa	Duodenum
5	chr2:211483400-211493200	Strong transcription	Liver	Liver
6	chr2:211484000-211485200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr2:211484800-211486000	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr2:211485000-211485200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr2:211485000-211485800	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr2:211485000-211486000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr2:211485000-211486000	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr2:211485000-211493600	Strong transcription	Fetal Intestine Large	intestine

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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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