Variant report

Variant	rs72707469
Chromosome Location	chr1:186134561-186134562
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11579683	0.82[EUR][1000 genomes]
rs11583483	0.84[EUR][1000 genomes]
rs12120763	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12124387	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1358933	0.84[AFR][1000 genomes]
rs16825040	0.85[EUR][1000 genomes]
rs56138834	0.87[EUR][1000 genomes]
rs6425021	0.85[EUR][1000 genomes]
rs6680616	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186046400-186135200	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr1:186113800-186135800	Weak transcription	Ovary	ovary
3	chr1:186114600-186160800	Weak transcription	Fetal Kidney	kidney
4	chr1:186115400-186135400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:186116400-186135400	Weak transcription	Aorta	Aorta
6	chr1:186116600-186135400	Weak transcription	Lung	lung
7	chr1:186117200-186135800	Weak transcription	Fetal Lung	lung
8	chr1:186120000-186135200	Weak transcription	Liver	Liver
9	chr1:186122200-186135600	Weak transcription	K562	blood
10	chr1:186133200-186137400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr1:186133600-186160800	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr1:186133800-186134800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:186133800-186135000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:186133800-186135000	Enhancers	HMEC	breast
15	chr1:186133800-186147800	Weak transcription	Left Ventricle	heart
16	chr1:186134000-186134600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:186134000-186134800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:186134000-186134800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:186134000-186134800	Enhancers	NHEK	skin
20	chr1:186134000-186135000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:186134000-186135000	Enhancers	Osteobl	bone
22	chr1:186134000-186137200	Strong transcription	Adipose Nuclei	Adipose
23	chr1:186134200-186134600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:186134200-186134800	Enhancers	HepG2	liver
25	chr1:186134400-186134600	Enhancers	NH-A	brain

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