Variant report

Variant	rs742058
Chromosome Location	chr1:171091420-171091421
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10911664	0.98[ASN][1000 genomes]
rs10911683	0.82[ASN][1000 genomes]
rs10911839	0.85[GIH][hapmap]
rs10911841	0.85[GIH][hapmap]
rs1157459	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12080672	0.98[ASN][1000 genomes]
rs12086786	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12089338	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12402693	0.83[MEX][hapmap]
rs16863990	0.82[MEX][hapmap]
rs16864094	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1800822	0.82[ASN][1000 genomes]
rs1920152	0.85[GIH][hapmap]
rs1983550	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2064079	0.85[GIH][hapmap]
rs2064080	0.85[GIH][hapmap]
rs2235194	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2281002	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2281004	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28363533	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28363535	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28363557	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28363560	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28363597	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56672667	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56809838	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60447684	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61420043	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66880604	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66963071	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs67495591	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs68071659	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72712662	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs742057	1.00[ASN][1000 genomes]
rs909529	0.82[ASN][1000 genomes]
rs9970391	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9970392	0.98[ASN][1000 genomes]
rs9970495	0.97[EUR][1000 genomes];0.98[ASN][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	nsv1005902	chr1:171036690-171254916	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv535203	chr1:171036690-171254916	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171084200-171092200	Weak transcription	Small Intestine	intestine
2	chr1:171086600-171095800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:171089200-171091800	Weak transcription	Fetal Lung	lung
4	chr1:171089600-171095800	Weak transcription	NHLF	lung
5	chr1:171090200-171092000	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr1:171091000-171091600	Enhancers	Liver	Liver
7	chr1:171091000-171098200	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr1:171091400-171091600	Enhancers	Psoas Muscle	Psoas
9	chr1:171091400-171091600	Enhancers	Right Ventricle	heart
10	chr1:171091400-171091800	Enhancers	Brain Anterior Caudate	brain
11	chr1:171091400-171092400	Enhancers	Fetal Intestine Large	intestine
12	chr1:171091400-171092600	Enhancers	Aorta	Aorta
13	chr1:171091400-171092800	Enhancers	Adipose Nuclei	Adipose
14	chr1:171091400-171092800	Enhancers	Left Ventricle	heart
15	chr1:171091400-171092800	Enhancers	Right Atrium	heart
16	chr1:171091400-171093800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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