Variant report

Variant	rs72707470
Chromosome Location	chr1:186135557-186135558
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10489752	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11803845	0.90[ASN][1000 genomes]
rs11808677	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11809665	1.00[EUR][1000 genomes]
rs11811575	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16824945	0.94[EUR][1000 genomes]
rs16825022	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16825024	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35594835	0.90[ASN][1000 genomes]
rs41317507	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58758627	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59091582	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59379268	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6658106	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6672327	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72707450	0.94[EUR][1000 genomes]
rs72707466	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74136042	1.00[ASN][1000 genomes]
rs7527214	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7552194	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[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	esv3424090	chr1:185679718-186270877	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1004481	chr1:186095854-186750968	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv535223	chr1:186095854-186750968	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186113800-186135800	Weak transcription	Ovary	ovary
2	chr1:186114600-186160800	Weak transcription	Fetal Kidney	kidney
3	chr1:186117200-186135800	Weak transcription	Fetal Lung	lung
4	chr1:186122200-186135600	Weak transcription	K562	blood
5	chr1:186133200-186137400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr1:186133600-186160800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr1:186133800-186147800	Weak transcription	Left Ventricle	heart
8	chr1:186134000-186137200	Strong transcription	Adipose Nuclei	Adipose
9	chr1:186134600-186136800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:186134600-186139600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:186134600-186152200	Weak transcription	NH-A	brain
12	chr1:186134800-186139800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:186134800-186147000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:186135000-186146400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:186135000-186147800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:186135200-186136200	Strong transcription	Duodenum Smooth Muscle	Duodenum
17	chr1:186135200-186137000	Strong transcription	Liver	Liver
18	chr1:186135400-186136200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:186135400-186136200	Strong transcription	Lung	lung
20	chr1:186135400-186136800	Strong transcription	Aorta	Aorta

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