Variant report

Variant	rs72718866
Chromosome Location	chr1:185935101-185935102
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10489717	1.00[EUR][1000 genomes]
rs10489718	1.00[EUR][1000 genomes]
rs10911783	1.00[EUR][1000 genomes]
rs10911785	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10911787	1.00[EUR][1000 genomes]
rs10911788	1.00[EUR][1000 genomes]
rs10911789	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10911790	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11587002	1.00[EUR][1000 genomes]
rs11800990	1.00[EUR][1000 genomes]
rs11804668	1.00[EUR][1000 genomes]
rs12057384	1.00[EUR][1000 genomes]
rs12068599	1.00[EUR][1000 genomes]
rs12088571	1.00[EUR][1000 genomes]
rs12095309	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1555494	1.00[EUR][1000 genomes]
rs28696376	1.00[EUR][1000 genomes]
rs4288554	1.00[EUR][1000 genomes]
rs58291464	1.00[EUR][1000 genomes]
rs58610258	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72703022	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72703023	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72718868	1.00[EUR][1000 genomes]
rs72718870	1.00[EUR][1000 genomes]
rs7539719	0.81[EUR][1000 genomes]
rs7546152	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	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

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185924200-185940800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:185926800-185939000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:185927600-185938400	Weak transcription	Adipose Nuclei	Adipose
4	chr1:185930600-185938400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr1:185930600-185938400	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr1:185931400-185935200	Weak transcription	Fetal Kidney	kidney
7	chr1:185931400-185940800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:185931400-185940800	Weak transcription	Fetal Muscle Leg	muscle
9	chr1:185931800-185938600	Weak transcription	Fetal Lung	lung
10	chr1:185931800-185938600	Weak transcription	Fetal Stomach	stomach
11	chr1:185931800-185941200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:185933600-185935400	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr1:185933600-185935800	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr1:185933600-185936400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:185934200-185935600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:185934200-185936800	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr1:185934400-185938000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:185934400-185974000	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr1:185934600-185938400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr1:185934600-185938400	Weak transcription	NHLF	lung
21	chr1:185934600-185938600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr1:185934600-185969000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr1:185934800-185935200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr1:185934800-185935200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:185934800-185935200	Enhancers	Aorta	Aorta
26	chr1:185935000-185936000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr1:185935000-185936000	Enhancers	NHDF-Ad	bronchial

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