Variant report

Variant	rs997045
Chromosome Location	chr2:189022609-189022610
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:189019149..189021325-chr2:189022455..189024861,2	K562	blood:
2	chr2:189016643..189020649-chr2:189022455..189025667,3	K562	blood:

Extended variants
information (count: 143 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:136)

rs_ID	r²[population]
rs10175838	1.00[CHB][hapmap]
rs10180000	1.00[CHB][hapmap]
rs10189197	1.00[CHB][hapmap]
rs10209424	1.00[CHB][hapmap]
rs10460382	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10469734	1.00[CHB][hapmap]
rs10931328	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10931329	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10931330	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10931331	0.82[AMR][1000 genomes]
rs10931332	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11682297	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11684826	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11687382	0.92[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12465138	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12468413	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12478374	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12615631	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12693490	1.00[CHB][hapmap]
rs12693491	1.00[CHB][hapmap]
rs12693492	1.00[CHB][hapmap]
rs12693493	1.00[CHB][hapmap]
rs12693497	1.00[CHB][hapmap]
rs12990029	0.83[ASN][1000 genomes]
rs12992671	0.84[ASN][1000 genomes]
rs12995107	0.86[ASN][1000 genomes]
rs12995166	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12996638	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13003972	1.00[CHB][hapmap]
rs13006933	0.83[ASN][1000 genomes]
rs13011049	0.86[ASN][1000 genomes]
rs13015608	0.89[ASN][1000 genomes]
rs13017543	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13021054	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13021984	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13022215	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs13023212	0.89[ASN][1000 genomes]
rs13024023	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13027148	0.91[ASN][1000 genomes]
rs13027989	0.89[ASN][1000 genomes]
rs13029662	0.86[ASN][1000 genomes]
rs13032231	1.00[CHB][hapmap]
rs13035864	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1304011	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13382200	1.00[CHB][hapmap]
rs13390401	1.00[CHB][hapmap]
rs13394232	1.00[CHB][hapmap]
rs13403228	1.00[CHB][hapmap]
rs13429075	1.00[CHB][hapmap]
rs1371517	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1371518	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1371526	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1371527	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1371528	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1371529	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1371530	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1439888	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1439889	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1439894	0.89[AMR][1000 genomes]
rs1439898	0.89[ASN][1000 genomes]
rs1439900	0.89[ASN][1000 genomes]
rs1439901	0.89[ASN][1000 genomes]
rs1439903	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1439904	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1439905	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1439909	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16829839	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1821998	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2004888	1.00[CHB][hapmap]
rs2028374	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2043946	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2119090	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2119091	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2119093	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2218148	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2350563	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2350565	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2350566	0.92[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2350569	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2882449	0.91[ASN][1000 genomes]
rs34142137	0.80[ASN][1000 genomes]
rs34353529	1.00[CHB][hapmap]
rs34395949	0.86[ASN][1000 genomes]
rs34699014	0.83[ASN][1000 genomes]
rs34836837	0.89[ASN][1000 genomes]
rs35113537	0.89[ASN][1000 genomes]
rs35311707	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35355034	0.86[ASN][1000 genomes]
rs35699394	0.86[ASN][1000 genomes]
rs35823311	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4128404	1.00[CHB][hapmap]
rs4427987	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4450571	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4535011	1.00[CHB][hapmap]
rs4666754	0.81[EUR][1000 genomes]
rs4667212	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4667219	1.00[CHB][hapmap]
rs4667220	1.00[CHB][hapmap]
rs55755436	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58176375	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs61071123	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62179560	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62180847	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6434262	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6434277	1.00[CHB][hapmap]
rs6707652	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6707875	0.89[AMR][1000 genomes]
rs67082838	0.83[ASN][1000 genomes]
rs6712945	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6715740	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6718697	1.00[CHB][hapmap]
rs6720983	1.00[CHB][hapmap]
rs6723998	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6726233	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6738105	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6742606	0.83[AMR][1000 genomes]
rs6744309	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6745829	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6749283	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6749627	0.86[AMR][1000 genomes]
rs6756131	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs67732490	0.83[ASN][1000 genomes]
rs67804711	0.89[ASN][1000 genomes]
rs68028976	0.89[ASN][1000 genomes]
rs72907984	0.83[ASN][1000 genomes]
rs72909886	0.83[ASN][1000 genomes]
rs7565935	0.83[ASN][1000 genomes]
rs7571197	1.00[CHB][hapmap]
rs7571494	1.00[CHB][hapmap]
rs920408	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9288151	1.00[CHB][hapmap]
rs9288152	1.00[CHB][hapmap]
rs971268	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9808523	1.00[CHB][hapmap]
rs9808557	1.00[CHB][hapmap]
rs997044	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[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	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
3	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
4	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
5	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
6	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
7	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

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189004600-189026000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:189021000-189025200	Strong transcription	HUES6 Cell Line	embryonic stem cell
3	chr2:189022600-189024400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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