Variant report

Variant	rs13028752
Chromosome Location	chr2:211470960-211470961
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10932346	0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11889880	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11903254	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13005394	0.90[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap];0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs13005552	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13010668	0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs13016856	0.90[CEU][hapmap]
rs13025458	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2287600	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2371003	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34222197	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3770683	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3770684	1.00[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3821135	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[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	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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:211442400-211484200	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr2:211442800-211477800	Strong transcription	Liver	Liver
3	chr2:211448600-211480800	Weak transcription	Aorta	Aorta
4	chr2:211448800-211475400	Weak transcription	Ovary	ovary
5	chr2:211450200-211481400	Strong transcription	Duodenum Mucosa	Duodenum
6	chr2:211458200-211471000	Weak transcription	Fetal Intestine Small	intestine
7	chr2:211458600-211485000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr2:211459000-211475600	Strong transcription	Hela-S3	cervix
9	chr2:211463800-211474800	Weak transcription	Left Ventricle	heart
10	chr2:211464400-211480600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:211464600-211471000	Weak transcription	Adipose Nuclei	Adipose
12	chr2:211467200-211482000	Weak transcription	HepG2	liver
13	chr2:211467400-211475200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:211469400-211474400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:211469800-211471400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr2:211469800-211474800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr2:211470000-211475600	Strong transcription	Fetal Intestine Large	intestine
18	chr2:211470200-211471400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr2:211470800-211471000	Enhancers	HSMMtube	muscle

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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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