Variant report

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10456989	0.82[EUR][1000 genomes]
rs10457558	0.88[EUR][1000 genomes]
rs12190916	0.96[EUR][1000 genomes]
rs12200243	0.89[EUR][1000 genomes]
rs12207323	0.89[EUR][1000 genomes]
rs12207735	0.89[EUR][1000 genomes]
rs1396249	0.96[EUR][1000 genomes]
rs1603657	0.88[EUR][1000 genomes]
rs17059453	0.92[ASN][1000 genomes]
rs17059473	0.94[EUR][1000 genomes]
rs28580091	0.95[EUR][1000 genomes]
rs34157430	0.96[EUR][1000 genomes]
rs34261251	0.96[EUR][1000 genomes]
rs4549635	0.89[EUR][1000 genomes]
rs56116438	0.87[ASN][1000 genomes]
rs56684748	0.87[ASN][1000 genomes]
rs56725541	0.92[ASN][1000 genomes]
rs6569700	0.96[EUR][1000 genomes]
rs6906238	0.81[EUR][1000 genomes]
rs6912992	0.91[CEU][hapmap];0.83[GIH][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs6937306	0.82[EUR][1000 genomes]
rs6940545	0.96[EUR][1000 genomes]
rs71572935	0.94[EUR][1000 genomes]
rs72992294	0.84[ASN][1000 genomes]
rs72992295	0.84[ASN][1000 genomes]
rs72992299	0.87[ASN][1000 genomes]
rs72994307	0.87[ASN][1000 genomes]
rs72994310	0.87[ASN][1000 genomes]
rs72994322	0.92[ASN][1000 genomes]
rs72994328	0.99[ASN][1000 genomes]
rs9483175	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533971	chr6:130490694-131172051	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv830806	chr6:130938330-131107137	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv604664	chr6:131004998-131115817	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	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
rs2221651	ECHDC1	cis	cerebellum	SCAN
rs2221651	MRPL30	trans	cerebellum	SCAN
rs2221651	MOXD1	cis	parietal	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131037000-131045200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:131039600-131045000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr6:131039800-131044800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr6:131043800-131044800	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr6:131043800-131044800	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr6:131043800-131046800	Weak transcription	Aorta	Aorta
7	chr6:131044600-131045800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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