Variant report

Variant	rs55755436
Chromosome Location	chr2:189007916-189007917
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 102 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs10460382	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10931328	0.80[ASN][1000 genomes]
rs10931329	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10931333	0.86[ASN][1000 genomes]
rs10931334	0.86[ASN][1000 genomes]
rs10931336	0.86[ASN][1000 genomes]
rs11682297	0.80[ASN][1000 genomes]
rs11687382	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12465138	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12478374	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12615631	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12990029	0.94[ASN][1000 genomes]
rs12992671	0.95[ASN][1000 genomes]
rs12993224	0.82[ASN][1000 genomes]
rs12996638	0.86[EUR][1000 genomes]
rs13005325	0.86[ASN][1000 genomes]
rs13006933	0.94[ASN][1000 genomes]
rs13015608	1.00[ASN][1000 genomes]
rs13017543	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13021054	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13021984	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13023212	1.00[ASN][1000 genomes]
rs13024023	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13027011	0.86[ASN][1000 genomes]
rs13027148	0.80[ASN][1000 genomes]
rs13027989	1.00[ASN][1000 genomes]
rs13035864	0.81[AMR][1000 genomes]
rs1304011	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1371517	0.86[ASN][1000 genomes]
rs1371518	0.86[ASN][1000 genomes]
rs1371526	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1371527	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1371528	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1371529	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1371530	0.89[ASN][1000 genomes]
rs1439888	0.85[EUR][1000 genomes]
rs1439889	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1439894	0.86[ASN][1000 genomes]
rs1439898	1.00[ASN][1000 genomes]
rs1439900	1.00[ASN][1000 genomes]
rs1439901	1.00[ASN][1000 genomes]
rs1439904	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1439905	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1439909	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16829839	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2028374	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2043946	0.83[EUR][1000 genomes]
rs2119090	0.83[EUR][1000 genomes]
rs2119091	0.86[ASN][1000 genomes]
rs2119093	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2218148	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2350563	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2350565	0.86[EUR][1000 genomes]
rs2350566	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2350569	0.83[ASN][1000 genomes]
rs2882449	0.80[ASN][1000 genomes]
rs34142137	0.80[ASN][1000 genomes]
rs34555222	0.86[ASN][1000 genomes]
rs34699014	0.94[ASN][1000 genomes]
rs34836837	1.00[ASN][1000 genomes]
rs35113537	1.00[ASN][1000 genomes]
rs35311707	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35823311	0.83[EUR][1000 genomes]
rs4427987	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4450571	0.85[EUR][1000 genomes]
rs4666754	0.89[EUR][1000 genomes]
rs4666757	0.86[ASN][1000 genomes]
rs4667212	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4667213	0.86[ASN][1000 genomes]
rs58176375	0.80[ASN][1000 genomes]
rs61071123	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62179560	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62180847	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6434262	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6707652	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6707875	0.86[ASN][1000 genomes]
rs67082838	0.94[ASN][1000 genomes]
rs6712945	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6715740	0.81[AMR][1000 genomes]
rs6723998	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6726233	0.86[EUR][1000 genomes]
rs6742606	0.86[ASN][1000 genomes]
rs6744309	0.81[AMR][1000 genomes]
rs6745829	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6749283	0.87[EUR][1000 genomes]
rs67732490	0.94[ASN][1000 genomes]
rs67804711	1.00[ASN][1000 genomes]
rs68028976	1.00[ASN][1000 genomes]
rs72907984	0.94[ASN][1000 genomes]
rs72909886	0.94[ASN][1000 genomes]
rs7565935	0.94[ASN][1000 genomes]
rs920408	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs971268	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs997044	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs997045	0.85[AMR][1000 genomes];0.92[EUR][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	nsv533353	chr2:188498301-189024655	Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv875602	chr2:188923773-189016215	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv875603	chr2:188923773-189025977	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv584044	chr2:188928433-189016215	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv1002714	chr2:188934297-189025084	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv875604	chr2:188957640-189043137	Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1010394	chr2:188994398-189284092	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188979400-189013600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:189004600-189026000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:189005400-189010600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr2:189006200-189008000	Enhancers	HUVEC	blood vessel
5	chr2:189006200-189008200	Enhancers	HMEC	breast
6	chr2:189006600-189008400	Enhancers	NHEK	skin
7	chr2:189006600-189008800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:189006800-189008000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:189006800-189008200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:189006800-189008400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:189007000-189008200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:189007000-189008200	Enhancers	Placenta Amnion	Placenta Amnion
13	chr2:189007200-189008400	Enhancers	Muscle Satellite Cultured Cells	--
14	chr2:189007200-189008800	Enhancers	NHDF-Ad	bronchial
15	chr2:189007200-189010800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr2:189007400-189008400	Enhancers	A549	lung
17	chr2:189007800-189008200	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr2:189007800-189009200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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