Variant report

Variant	rs4258186
Chromosome Location	chr1:79589780-79589781
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10735755	0.82[ASN][1000 genomes]
rs10782680	0.81[AFR][1000 genomes]
rs10874020	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10874024	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11162650	0.82[ASN][1000 genomes]
rs12037796	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12039513	0.88[ASN][1000 genomes]
rs12040293	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12040637	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12046167	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12062688	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1386591	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1487553	0.87[ASN][1000 genomes]
rs1487554	0.87[ASN][1000 genomes]
rs1487556	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1487557	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1545971	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1555385	0.88[ASN][1000 genomes]
rs1555386	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1555388	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2029252	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs228458	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs228461	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs228463	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs390842	0.87[ASN][1000 genomes]
rs401462	0.82[ASN][1000 genomes]
rs41355253	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4650388	0.81[AFR][1000 genomes]
rs55729951	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6424637	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6424639	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6690294	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs721647	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72678160	0.89[ASN][1000 genomes]
rs72678177	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7416482	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7513762	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7526520	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491784	chr1:79146141-79853482	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv546619	chr1:79233493-79614989	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv546631	chr1:79518810-79614989	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv546632	chr1:79534138-79594157	Weak transcription Enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv1009913	chr1:79540957-79616947	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1007013	chr1:79540957-79619725	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1005743	chr1:79540957-79621702	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv830326	chr1:79573379-79735667	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 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	chr1:79571200-79594600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:79572200-79590200	Weak transcription	HUVEC	blood vessel
3	chr1:79589000-79601000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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