Variant report

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

rs_ID	r²[population]
rs16864312	1.00[ASN][1000 genomes]
rs16864314	1.00[ASN][1000 genomes]
rs16864332	1.00[ASN][1000 genomes]
rs16864353	1.00[ASN][1000 genomes]
rs16864359	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16864362	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16864368	1.00[ASN][1000 genomes]
rs16864389	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16864392	1.00[AMR][1000 genomes]
rs16864395	1.00[AMR][1000 genomes]
rs16864396	1.00[AMR][1000 genomes]
rs2038097	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28360425	1.00[ASN][1000 genomes]
rs28360434	1.00[ASN][1000 genomes]
rs28360435	1.00[ASN][1000 genomes]
rs45443493	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs45452395	1.00[AMR][1000 genomes]
rs45458993	1.00[AMR][1000 genomes]
rs45490301	1.00[AMR][1000 genomes]
rs45508097	1.00[AMR][1000 genomes]
rs45520235	1.00[AMR][1000 genomes]
rs45552133	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs45560645	1.00[AMR][1000 genomes]
rs45569734	1.00[AMR][1000 genomes]
rs45579736	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs45627437	1.00[AMR][1000 genomes]
rs58887979	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6685422	1.00[ASN][1000 genomes]
rs6699241	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs717023	1.00[AMR][1000 genomes]
rs717024	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001228	chr1:170885787-171452579	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	esv10193	chr1:171128845-171414611	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv831882	chr1:171166224-171326083	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171261600-171266400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr1:171261800-171266200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:171263600-171266400	Enhancers	NHDF-Ad	bronchial
4	chr1:171264000-171264800	Enhancers	Fetal Intestine Large	intestine
5	chr1:171264000-171265800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:171264000-171266400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:171264400-171265000	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr1:171264400-171266400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:171264400-171266600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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