Variant report

Variant	rs12514098
Chromosome Location	chr5:94065130-94065131
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 87 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs1006627	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1026232	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1031389	0.81[CHD][hapmap]
rs11135406	1.00[CEU][hapmap];0.81[CHB][hapmap];0.92[JPT][hapmap];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11135407	0.81[CHB][hapmap];0.97[CHD][hapmap]
rs11135409	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11135410	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1124668	0.81[CHB][hapmap];0.97[CHD][hapmap]
rs11955417	0.89[ASN][1000 genomes]
rs11955446	0.89[ASN][1000 genomes]
rs12515845	0.81[CHB][hapmap];0.86[ASN][1000 genomes]
rs12519472	0.88[CEU][hapmap];0.84[CHB][hapmap];0.92[JPT][hapmap];0.92[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12521289	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12523457	0.81[CHB][hapmap];1.00[CHD][hapmap];0.87[ASN][1000 genomes]
rs12651956	0.82[ASN][1000 genomes]
rs12653116	0.80[ASN][1000 genomes]
rs12653594	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12653819	0.84[ASW][hapmap];1.00[CEU][hapmap];0.95[CHD][hapmap];0.90[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.80[ASN][1000 genomes]
rs12655521	0.81[CHB][hapmap];0.97[CHD][hapmap]
rs12655665	0.81[CHB][hapmap]
rs12655669	1.00[ASW][hapmap];1.00[CEU][hapmap];0.81[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];0.93[YRI][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12659125	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12659597	0.81[CHB][hapmap];0.97[CHD][hapmap]
rs13156960	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1390642	0.81[CHB][hapmap]
rs1451735	0.92[CHD][hapmap]
rs1562911	1.00[CEU][hapmap];0.81[CHB][hapmap];0.93[JPT][hapmap];0.92[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17083824	0.84[ASW][hapmap];1.00[CEU][hapmap];0.81[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17083825	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17083826	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17083873	1.00[CEU][hapmap];0.81[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.94[MEX][hapmap];0.95[TSI][hapmap];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17083896	1.00[CEU][hapmap];0.81[CHB][hapmap];0.93[JPT][hapmap];0.93[YRI][hapmap];0.80[AFR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17083911	0.84[ASW][hapmap];1.00[CEU][hapmap];0.81[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17083945	0.81[CHB][hapmap];0.97[CHD][hapmap];0.85[ASN][1000 genomes]
rs2003118	0.87[ASN][1000 genomes]
rs2044910	1.00[CEU][hapmap];0.84[AFR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2044911	0.81[CHB][hapmap]
rs2047318	0.81[CHB][hapmap];0.97[CHD][hapmap]
rs2047319	0.84[ASW][hapmap];1.00[CEU][hapmap];0.81[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2122984	0.81[CHB][hapmap]
rs2122985	0.86[CHB][hapmap]
rs2132548	0.81[CHB][hapmap]
rs2346764	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2346765	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34074526	0.87[ASN][1000 genomes]
rs35111621	0.87[ASN][1000 genomes]
rs3947399	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4537040	0.80[AFR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57041121	0.80[AFR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61152231	0.87[ASN][1000 genomes]
rs61238929	0.89[ASN][1000 genomes]
rs6556850	0.81[CHB][hapmap]
rs6556851	0.81[CHB][hapmap]
rs66666052	0.82[ASN][1000 genomes]
rs66901899	0.91[ASN][1000 genomes]
rs67573880	0.87[ASN][1000 genomes]
rs67577452	0.87[ASN][1000 genomes]
rs67674687	0.89[ASN][1000 genomes]
rs6869588	1.00[CEU][hapmap];0.81[CHB][hapmap];0.93[JPT][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6879347	0.81[EUR][1000 genomes]
rs6883128	0.83[JPT][hapmap]
rs6890092	0.95[CHD][hapmap];0.80[ASN][1000 genomes]
rs6891545	0.81[CHB][hapmap];0.87[CHD][hapmap]
rs6893587	0.84[AFR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72771700	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72773504	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72773507	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72773513	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72773522	0.80[AFR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72773523	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72773524	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72773541	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72773556	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72773573	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72773575	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72773586	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72773592	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72775304	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7446179	0.81[CHB][hapmap];0.97[CHD][hapmap]
rs755900	0.81[CHB][hapmap]
rs7735473	0.95[CHB][hapmap];0.82[JPT][hapmap];0.91[ASN][1000 genomes]
rs7737187	0.85[JPT][hapmap];0.81[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7737366	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs880264	0.86[ASN][1000 genomes]
rs9791082	0.81[CHB][hapmap];1.00[CHD][hapmap];0.84[ASN][1000 genomes]
rs9918142	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882387	chr5:94001476-94071404	Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12514098	C5orf36	cis	lymphoblastoid	seeQTL
rs12514098	MCTP1	cis	lymphoblastoid	seeQTL
rs12514098	ELL2	cis	cerebellum	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:94048600-94071600	Weak transcription	Lung	lung
2	chr5:94048600-94081400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr5:94049400-94081400	Weak transcription	HUVEC	blood vessel
4	chr5:94049800-94077600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr5:94050600-94065400	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr5:94050600-94069000	Weak transcription	Hela-S3	cervix
7	chr5:94051000-94067800	Weak transcription	Fetal Thymus	thymus
8	chr5:94052400-94079600	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr5:94064600-94065200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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