Variant report

Variant	rs1821998
Chromosome Location	chr2:189035930-189035931
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10931328	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10931329	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10931330	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10931331	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10931332	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10931333	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10931334	0.88[ASN][1000 genomes]
rs10931336	0.88[ASN][1000 genomes]
rs11682297	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11684826	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11687382	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12465138	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12468413	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12995107	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12995166	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12996638	0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs13011049	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13017543	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs13022215	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13027011	0.88[ASN][1000 genomes]
rs13027148	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13029662	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13035864	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1304011	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1371517	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1371518	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1371526	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1439888	0.87[AMR][1000 genomes]
rs1439889	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1439894	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1439903	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1439904	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1439905	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16829839	0.90[AMR][1000 genomes]
rs2043946	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2119090	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2119091	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2119093	0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2218148	0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2350565	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2350566	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2350569	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2882449	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34142137	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34395949	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34555222	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35143496	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35355034	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35699394	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35823311	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4450571	0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4666757	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4667213	0.88[ASN][1000 genomes]
rs58176375	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61071123	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs62179560	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6707875	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6715740	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6726233	0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6738105	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6742606	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6744309	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6745829	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6749283	0.91[ASN][1000 genomes]
rs6749627	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6756131	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72911800	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs920408	0.86[AMR][1000 genomes]
rs997044	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs997045	0.88[AMR][1000 genomes];0.86[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	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
2	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
3	nsv875605	chr2:189017499-189080087	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv998395	chr2:189018246-189284092	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
5	nsv521460	chr2:189025977-189046900	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189030600-189039200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:189034200-189050000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:189035000-189036000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:189035000-189036400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:189035400-189039400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr2:189035800-189038000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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