Variant report

Variant	rs1396249
Chromosome Location	chr6:131044590-131044591
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10456989	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10456991	1.00[ASN][1000 genomes]
rs10457558	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12190916	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12192664	1.00[ASN][1000 genomes]
rs12197236	1.00[ASN][1000 genomes]
rs12200243	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12200889	1.00[ASN][1000 genomes]
rs12207323	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12207401	1.00[ASN][1000 genomes]
rs12207735	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12210483	1.00[ASN][1000 genomes]
rs12212907	1.00[ASN][1000 genomes]
rs12214117	1.00[ASN][1000 genomes]
rs13205393	1.00[ASN][1000 genomes]
rs13219477	1.00[ASN][1000 genomes]
rs1603657	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17059473	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17829411	0.80[CEU][hapmap]
rs2221651	0.96[EUR][1000 genomes]
rs28580091	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34043716	1.00[ASN][1000 genomes]
rs34157430	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34261251	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4549635	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6569700	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6906238	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6912992	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6937306	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6940545	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71572935	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71572945	1.00[ASN][1000 genomes]
rs9483175	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][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

No data

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	chr6:131039200-131044600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr6:131039600-131045000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr6:131039800-131044800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr6:131043800-131044800	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr6:131043800-131044800	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr6:131043800-131046800	Weak transcription	Aorta	Aorta

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