Variant report

Variant	rs696092
Chromosome Location	chr2:188210214-188210215
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 161 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:156)

rs_ID	r²[population]
rs10174456	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10174735	0.90[ASN][1000 genomes]
rs10179705	0.96[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10181823	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10181845	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10191833	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10194145	0.93[ASN][1000 genomes]
rs10194247	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10201618	0.89[ASN][1000 genomes]
rs10203398	0.92[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10203781	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10931283	0.96[CEU][hapmap];0.84[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs10931284	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs10931288	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10931289	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11674362	1.00[CHB][hapmap];0.83[CHD][hapmap]
rs11685426	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11688116	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11688157	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11689123	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11691442	0.93[ASN][1000 genomes]
rs11894589	0.90[ASN][1000 genomes]
rs11897572	0.92[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11903296	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12104503	1.00[CHB][hapmap];0.83[CHD][hapmap]
rs12693471	0.90[ASN][1000 genomes]
rs12987470	0.87[ASN][1000 genomes]
rs13013355	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13019491	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13028645	0.81[ASN][1000 genomes]
rs13392947	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13409829	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13411274	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs13418253	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13418561	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13424790	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13425233	0.90[ASN][1000 genomes]
rs13430354	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13430665	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1355519	0.92[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1355520	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1398061	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1528233	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1528236	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1540859	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1609268	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1632282	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16829016	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1706246	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1706254	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1706261	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1706262	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1706273	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1706276	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1728678	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1728680	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1728690	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17367055	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17464221	0.81[CEU][hapmap];0.89[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17756804	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1912848	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1983492	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2030976	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2058670	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2203117	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2349315	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2882203	1.00[CHB][hapmap];0.92[CHD][hapmap]
rs35056802	0.81[ASN][1000 genomes]
rs35870933	0.81[ASN][1000 genomes]
rs36110670	0.90[ASN][1000 genomes]
rs36146505	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3771058	0.84[ASN][1000 genomes]
rs3771059	0.92[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs3771061	0.88[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs3771067	0.88[CHB][hapmap];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3771076	1.00[CHB][hapmap]
rs3771078	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3821180	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3821184	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4140885	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4667160	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59400383	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60343740	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62172532	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62172533	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6434219	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.83[TSI][hapmap];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6719550	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67285003	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6744012	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6753700	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs698579	1.00[CEU][hapmap];0.81[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.90[TSI][hapmap];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs698582	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs698583	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs698588	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs698590	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs698592	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs698593	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72902495	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7576066	0.87[ASN][1000 genomes]
rs7586970	0.92[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7589163	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7591567	0.92[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7598858	0.92[CEU][hapmap];0.90[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs8176479	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs8176498	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs8176501	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs8176506	0.84[ASN][1000 genomes]
rs8176525	0.87[ASN][1000 genomes]
rs8176526	0.85[ASN][1000 genomes]
rs8176528	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs8176541	0.92[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs8176546	0.92[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs8176548	0.80[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap]
rs8176580	0.92[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs8176583	0.92[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs8176592	0.92[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs840564	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs840567	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs840569	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs840570	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs840571	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs840572	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs840574	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs840576	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs840577	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs840578	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs840583	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs840584	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs840585	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs840586	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs840587	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs840588	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs840589	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs840590	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs840591	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs840593	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs840595	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs840596	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs840597	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs840609	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs840610	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs840611	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs840616	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs858744	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.81[MEX][hapmap];0.90[TSI][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs858756	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs858758	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs858759	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.86[TSI][hapmap];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs858919	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs860846	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs860859	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs861458	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs863972	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs865763	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs880890	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs907463	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9288140	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.97[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	nsv949700	chr2:187713412-188361211	Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1003061	chr2:187950057-188282330	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1000617	chr2:187950057-188290511	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv533935	chr2:188089148-188284766	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv834487	chr2:188182556-188353363	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs696092	ORMDL1	cis	cerebellum	SCAN
rs696092	CALCRL	cis	cerebellum	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188203200-188218200	Weak transcription	Aorta	Aorta
2	chr2:188203800-188210400	Weak transcription	Left Ventricle	heart
3	chr2:188203800-188222400	Weak transcription	Fetal Muscle Leg	muscle
4	chr2:188204000-188253600	Weak transcription	Fetal Muscle Trunk	muscle
5	chr2:188204600-188213400	Weak transcription	Fetal Lung	lung
6	chr2:188206800-188213800	Strong transcription	HUVEC	blood vessel
7	chr2:188208600-188210600	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr2:188208800-188250400	Weak transcription	Primary T cells from cord blood	blood
9	chr2:188209000-188212000	Strong transcription	Primary hematopoietic stem cells	blood
10	chr2:188209000-188229600	Weak transcription	Fetal Thymus	thymus
11	chr2:188209200-188222600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr2:188209400-188213800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:188209600-188221400	Weak transcription	Fetal Kidney	kidney
14	chr2:188209800-188212200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:188209800-188233400	Weak transcription	Right Ventricle	heart
16	chr2:188210000-188212600	Weak transcription	Psoas Muscle	Psoas
17	chr2:188210200-188210800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:188210200-188211000	Strong transcription	Adipose Nuclei	Adipose
19	chr2:188210200-188211000	Strong transcription	Ovary	ovary
20	chr2:188210200-188211400	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr2:188210200-188212200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr2:188210200-188212200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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