Variant report

Variant	rs16844788
Chromosome Location	chr2:211540863-211540864
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10171279	0.93[ASN][1000 genomes]
rs10194936	0.94[ASN][1000 genomes]
rs10490320	0.94[ASN][1000 genomes]
rs11887861	0.93[ASN][1000 genomes]
rs12464089	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12622994	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12623361	0.95[ASN][1000 genomes]
rs13386028	0.94[ASN][1000 genomes]
rs13402511	0.94[ASN][1000 genomes]
rs16824974	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs16844800	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16844851	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1861897	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2287414	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2287415	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2371015	0.93[ASN][1000 genomes]
rs2371016	0.94[ASN][1000 genomes]
rs2371018	0.94[ASN][1000 genomes]
rs2371021	0.94[ASN][1000 genomes]
rs2371022	0.94[ASN][1000 genomes]
rs2371023	0.94[ASN][1000 genomes]
rs2887915	0.94[ASN][1000 genomes]
rs2887930	0.81[EUR][1000 genomes]
rs35863145	0.94[ASN][1000 genomes]
rs4142151	0.95[ASN][1000 genomes]
rs4142152	0.94[ASN][1000 genomes]
rs4142153	0.95[ASN][1000 genomes]
rs4310998	0.94[ASN][1000 genomes]
rs4381725	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4467202	0.92[ASN][1000 genomes]
rs4584964	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4672588	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4673547	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4673549	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs5002316	0.95[ASN][1000 genomes]
rs57395348	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs58393285	0.85[AMR][1000 genomes]
rs59602419	0.85[ASN][1000 genomes]
rs6735614	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6752652	0.90[ASN][1000 genomes]
rs9288420	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
4	nsv536136	chr2:211497528-211830019	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv821631	chr2:211528918-211658981	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:211528800-211542400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr2:211532000-211547000	Strong transcription	Liver	Liver
3	chr2:211532400-211547200	Strong transcription	Fetal Intestine Large	intestine
4	chr2:211533000-211547000	Strong transcription	Duodenum Mucosa	Duodenum
5	chr2:211538400-211541000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:211539000-211542600	Weak transcription	Fetal Intestine Small	intestine
7	chr2:211539800-211545400	Strong transcription	Hela-S3	cervix
8	chr2:211540400-211541200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:211540400-211541400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr2:211540600-211541400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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