Variant report

Variant	rs4667249
Chromosome Location	chr2:189700120-189700121
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10084412	0.80[EUR][1000 genomes]
rs10166484	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10209411	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10804024	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10931381	0.90[EUR][1000 genomes]
rs10931382	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1157434	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11679794	0.84[EUR][1000 genomes]
rs11686942	0.80[EUR][1000 genomes]
rs11891828	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11902285	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12185550	0.84[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12470289	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12617610	0.89[EUR][1000 genomes]
rs12619491	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12620233	0.80[EUR][1000 genomes]
rs12624180	0.89[EUR][1000 genomes]
rs12624203	0.83[EUR][1000 genomes]
rs12998848	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13001931	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13012958	0.86[EUR][1000 genomes]
rs13017203	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13020633	0.84[EUR][1000 genomes]
rs13024524	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13026165	0.84[EUR][1000 genomes]
rs1400946	0.80[EUR][1000 genomes]
rs1516448	0.85[EUR][1000 genomes]
rs1516449	0.84[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs1518006	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1518010	0.83[EUR][1000 genomes]
rs1518011	0.80[EUR][1000 genomes]
rs1518012	1.00[CEU][hapmap];0.85[CHB][hapmap];0.83[EUR][1000 genomes]
rs1518013	0.84[EUR][1000 genomes]
rs1518014	0.84[EUR][1000 genomes]
rs1524375	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1568235	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1589133	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1607315	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1607316	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17355585	1.00[JPT][hapmap]
rs1829305	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1850274	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1850553	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1878650	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1995702	0.83[EUR][1000 genomes]
rs1996457	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2138959	0.84[EUR][1000 genomes]
rs2138960	0.83[EUR][1000 genomes]
rs2176501	0.80[EUR][1000 genomes]
rs2177544	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2351099	0.84[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2708209	1.00[JPT][hapmap]
rs34017611	0.85[EUR][1000 genomes]
rs3856335	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4261667	0.83[EUR][1000 genomes]
rs4306657	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4666764	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4667243	0.80[EUR][1000 genomes]
rs4667244	0.81[EUR][1000 genomes]
rs4667245	0.81[EUR][1000 genomes]
rs6710589	0.84[EUR][1000 genomes]
rs6711038	0.84[EUR][1000 genomes]
rs6744781	0.80[EUR][1000 genomes]
rs6748400	0.83[EUR][1000 genomes]
rs6757283	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7583964	0.80[EUR][1000 genomes]
rs7587646	0.85[EUR][1000 genomes]
rs7587851	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7590689	0.85[EUR][1000 genomes]
rs7594142	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7598731	0.84[EUR][1000 genomes]
rs7600697	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs981265	0.92[EUR][1000 genomes];0.91[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	nsv1003974	chr2:189331760-189827814	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv875607	chr2:189579045-189711790	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1008847	chr2:189603961-189769705	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv997454	chr2:189615728-189770133	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1002175	chr2:189615728-189776301	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr2:189695400-189705000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:189699200-189700400	Weak transcription	Spleen	Spleen
3	chr2:189700000-189700600	Enhancers	Fetal Stomach	stomach

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