Variant report

Variant	rs72793921
Chromosome Location	chr5:108267057-108267058
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10515399	0.90[ASN][1000 genomes]
rs11948270	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11950165	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11956900	0.85[EUR][1000 genomes]
rs11960268	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11960336	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3797818	0.98[ASN][1000 genomes]
rs3797819	0.97[ASN][1000 genomes]
rs3797820	0.97[ASN][1000 genomes]
rs3797821	0.98[ASN][1000 genomes]
rs3797823	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3797825	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4404726	0.88[EUR][1000 genomes]
rs4957793	0.90[ASN][1000 genomes]
rs55899933	0.88[EUR][1000 genomes]
rs56121551	0.90[ASN][1000 genomes]
rs57814250	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58647764	0.90[ASN][1000 genomes]
rs58729959	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60834821	0.89[EUR][1000 genomes]
rs66623856	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66851282	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67053762	0.84[ASN][1000 genomes]
rs67586696	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6867147	0.85[EUR][1000 genomes]
rs6872299	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6882759	0.90[ASN][1000 genomes]
rs6884648	0.90[ASN][1000 genomes]
rs6893501	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6893984	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72789336	0.85[EUR][1000 genomes]
rs72789338	0.85[EUR][1000 genomes]
rs72789339	0.85[EUR][1000 genomes]
rs72790513	0.85[EUR][1000 genomes]
rs72790518	0.81[EUR][1000 genomes]
rs73209364	0.93[ASN][1000 genomes]
rs73209368	0.94[ASN][1000 genomes]
rs73209370	0.91[ASN][1000 genomes]
rs73211527	0.91[ASN][1000 genomes]
rs73211528	0.91[ASN][1000 genomes]
rs73211549	0.90[ASN][1000 genomes]
rs73211553	0.90[ASN][1000 genomes]
rs73211559	0.90[ASN][1000 genomes]
rs73211560	0.90[ASN][1000 genomes]
rs73778332	0.93[ASN][1000 genomes]
rs73778336	0.91[ASN][1000 genomes]
rs73778344	0.90[ASN][1000 genomes]
rs73778358	0.90[ASN][1000 genomes]
rs73778371	0.85[EUR][1000 genomes]
rs7719638	0.91[ASN][1000 genomes]
rs7723942	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7726922	0.86[EUR][1000 genomes]
rs7731116	0.93[ASN][1000 genomes]
rs7731221	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7732335	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7732510	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7734092	0.94[ASN][1000 genomes]
rs7734110	0.94[ASN][1000 genomes]
rs7735749	0.90[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	nsv882689	chr5:107595383-108299744	Enhancers ZNF genes & repeats Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1016343	chr5:108220116-108364687	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv882691	chr5:108229760-108366473	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
4	esv3373526	chr5:108265078-108267626	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:108197000-108268200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr5:108199200-108271400	Weak transcription	Aorta	Aorta
3	chr5:108203800-108323400	Weak transcription	Primary B cells from cord blood	blood
4	chr5:108208200-108268800	Weak transcription	Primary T cells from cord blood	blood
5	chr5:108214200-108272200	Weak transcription	Gastric	stomach
6	chr5:108217600-108323200	Weak transcription	Left Ventricle	heart
7	chr5:108221400-108280600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr5:108229600-108269800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:108230200-108302400	Weak transcription	HSMM	muscle
10	chr5:108242200-108271000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr5:108244200-108295000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr5:108247200-108277600	Weak transcription	Fetal Lung	lung
13	chr5:108250400-108277600	Weak transcription	Brain Hippocampus Middle	brain
14	chr5:108254000-108269400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr5:108254000-108311200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr5:108260400-108268000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr5:108260600-108267200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr5:108260600-108269800	Weak transcription	Fetal Intestine Small	intestine
19	chr5:108260600-108270800	Weak transcription	Ovary	ovary
20	chr5:108260600-108277600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr5:108263400-108271000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr5:108265600-108268200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr5:108265600-108269800	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr5:108266400-108268400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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