Variant report

Variant	rs72718864
Chromosome Location	chr1:185931980-185931981
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10047250	1.00[EUR][1000 genomes]
rs10157843	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10911783	0.93[AMR][1000 genomes]
rs10911784	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10911787	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1116146	0.91[EUR][1000 genomes]
rs11580879	0.91[EUR][1000 genomes]
rs11586768	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11586771	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11589455	0.92[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs12059676	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12062879	1.00[EUR][1000 genomes]
rs12068829	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12073492	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12077084	0.93[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs12088513	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12094899	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1322361	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1407427	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28535260	0.93[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs28792457	0.84[EUR][1000 genomes]
rs34427602	0.91[AFR][1000 genomes]
rs35875123	0.91[EUR][1000 genomes]
rs6425011	1.00[EUR][1000 genomes]
rs6662653	0.91[EUR][1000 genomes]
rs6675465	0.91[EUR][1000 genomes]
rs72718862	0.91[EUR][1000 genomes]
rs72718865	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72718867	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72718875	0.91[EUR][1000 genomes]
rs72718880	0.91[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	chr1:185895200-185932200	Weak transcription	Aorta	Aorta
2	chr1:185924200-185940800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:185926800-185933600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr1:185926800-185939000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:185927600-185938400	Weak transcription	Adipose Nuclei	Adipose
6	chr1:185928000-185933600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr1:185928000-185933600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr1:185929400-185933600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr1:185930000-185935000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:185930400-185933600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:185930600-185938400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:185930600-185938400	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr1:185931200-185933600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr1:185931200-185934800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:185931400-185933600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:185931400-185933600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:185931400-185933800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:185931400-185935200	Weak transcription	Fetal Kidney	kidney
19	chr1:185931400-185940800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:185931400-185940800	Weak transcription	Fetal Muscle Leg	muscle
21	chr1:185931600-185933800	Weak transcription	NHLF	lung
22	chr1:185931800-185932200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:185931800-185933800	Weak transcription	NHDF-Ad	bronchial
24	chr1:185931800-185934200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr1:185931800-185938600	Weak transcription	Fetal Lung	lung
26	chr1:185931800-185938600	Weak transcription	Fetal Stomach	stomach
27	chr1:185931800-185941200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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