Variant report

Variant	rs2882449
Chromosome Location	chr2:189025084-189025085
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 143 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:137)

rs_ID	r²[population]
rs10175838	0.84[CEU][hapmap];1.00[CHB][hapmap]
rs10180000	0.84[CEU][hapmap];1.00[CHB][hapmap]
rs10189197	0.84[CEU][hapmap];1.00[CHB][hapmap]
rs10209424	0.84[CEU][hapmap];1.00[CHB][hapmap]
rs10460382	0.80[ASN][1000 genomes]
rs10469734	0.84[CEU][hapmap];1.00[CHB][hapmap]
rs10931328	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10931329	0.86[ASN][1000 genomes]
rs10931330	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10931331	0.84[EUR][1000 genomes]
rs10931332	0.86[ASN][1000 genomes]
rs10931333	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10931334	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10931336	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11682297	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11684826	0.94[ASN][1000 genomes]
rs11687382	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12465138	0.82[ASN][1000 genomes]
rs12468413	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12478374	0.80[ASN][1000 genomes]
rs12615631	0.80[ASN][1000 genomes]
rs12693490	0.80[CEU][hapmap];1.00[CHB][hapmap]
rs12693491	0.84[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.88[GIH][hapmap];0.86[TSI][hapmap]
rs12693492	0.86[CEU][hapmap];1.00[CHB][hapmap]
rs12693493	0.84[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.88[GIH][hapmap];0.86[TSI][hapmap]
rs12693497	0.84[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.88[GIH][hapmap];0.86[TSI][hapmap]
rs12992671	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12995107	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12995166	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13003679	0.81[EUR][1000 genomes]
rs13003972	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs13005325	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13011049	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13015608	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13017543	0.86[ASN][1000 genomes]
rs13021054	0.80[ASN][1000 genomes]
rs13021984	0.80[ASN][1000 genomes]
rs13022215	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13023212	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13024023	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs13027011	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13027148	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13027220	0.81[EUR][1000 genomes]
rs13027989	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13029662	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13032231	0.84[CEU][hapmap];1.00[CHB][hapmap]
rs13035864	0.94[ASN][1000 genomes]
rs1304011	0.91[ASN][1000 genomes]
rs13382200	0.84[CEU][hapmap];1.00[CHB][hapmap]
rs13390401	0.84[CEU][hapmap];1.00[CHB][hapmap]
rs13394232	0.84[CEU][hapmap];1.00[CHB][hapmap]
rs13403228	0.84[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.86[TSI][hapmap]
rs13429075	0.84[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];0.86[TSI][hapmap]
rs1371517	0.82[ASN][1000 genomes]
rs1371518	0.82[ASN][1000 genomes]
rs1371527	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[MEX][hapmap];0.80[ASN][1000 genomes]
rs1371528	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[MEX][hapmap];0.80[ASN][1000 genomes]
rs1371529	0.80[ASN][1000 genomes]
rs1371530	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs1439889	0.81[ASN][1000 genomes]
rs1439894	0.82[ASN][1000 genomes]
rs1439898	0.80[ASN][1000 genomes]
rs1439900	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1439901	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1439903	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1439904	0.86[ASN][1000 genomes]
rs1439905	0.82[ASN][1000 genomes]
rs1439909	0.80[ASN][1000 genomes]
rs16829628	0.91[CEU][hapmap]
rs16829839	0.80[ASN][1000 genomes]
rs1821998	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2004888	0.84[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.88[GIH][hapmap];0.86[TSI][hapmap]
rs2028374	0.80[ASN][1000 genomes]
rs2043946	0.86[ASN][1000 genomes]
rs2119090	0.91[ASN][1000 genomes]
rs2119091	0.82[ASN][1000 genomes]
rs2350563	0.80[ASN][1000 genomes]
rs2350566	0.88[ASN][1000 genomes]
rs2350569	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34142137	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34353529	0.84[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.88[GIH][hapmap];0.86[TSI][hapmap]
rs34395949	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34484855	0.83[EUR][1000 genomes]
rs34555222	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34699014	0.80[EUR][1000 genomes]
rs34836837	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35113537	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35143496	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35311707	0.80[ASN][1000 genomes]
rs35355034	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35699394	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35823311	0.91[ASN][1000 genomes]
rs4128404	0.84[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.88[GIH][hapmap];0.86[TSI][hapmap]
rs4427987	0.80[ASN][1000 genomes]
rs4535011	0.84[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.91[TSI][hapmap]
rs4666757	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4667212	0.80[ASN][1000 genomes]
rs4667213	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4667219	0.83[CEU][hapmap];1.00[CHB][hapmap]
rs4667220	0.90[CEU][hapmap];1.00[CHB][hapmap]
rs55755436	0.80[ASN][1000 genomes]
rs58176375	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61071123	0.83[ASN][1000 genomes]
rs62179560	0.86[ASN][1000 genomes]
rs62180847	0.80[ASN][1000 genomes]
rs6434262	0.80[ASN][1000 genomes]
rs6434277	0.84[CEU][hapmap];1.00[CHB][hapmap]
rs6707652	0.80[ASN][1000 genomes]
rs6707875	0.82[ASN][1000 genomes]
rs6712945	0.80[ASN][1000 genomes]
rs6715740	0.94[ASN][1000 genomes]
rs6718697	0.84[CEU][hapmap];1.00[CHB][hapmap]
rs6720983	0.83[CEU][hapmap];1.00[CHB][hapmap]
rs6723998	0.80[ASN][1000 genomes]
rs6738105	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6742606	0.82[ASN][1000 genomes]
rs6744309	0.94[ASN][1000 genomes]
rs6745829	0.86[ASN][1000 genomes]
rs6749283	0.86[ASN][1000 genomes]
rs6749627	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6756131	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67804711	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs68028976	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72901602	0.83[EUR][1000 genomes]
rs72909886	0.80[EUR][1000 genomes]
rs72911800	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7571197	0.84[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.88[GIH][hapmap];0.86[TSI][hapmap]
rs7571494	0.84[CEU][hapmap];1.00[CHB][hapmap]
rs920408	0.80[ASN][1000 genomes]
rs9288151	0.84[CEU][hapmap];1.00[CHB][hapmap]
rs9288152	1.00[CHB][hapmap]
rs9288153	0.84[CEU][hapmap]
rs971268	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs9808523	0.84[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];0.86[TSI][hapmap]
rs9808557	1.00[CHB][hapmap]
rs997044	0.91[ASN][1000 genomes]
rs997045	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2882449	COL3A1	cis	parietal	SCAN

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	chr2:189024600-189025800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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