Variant report

Variant	rs73209370
Chromosome Location	chr5:108297461-108297462
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10061582	0.85[ASN][1000 genomes]
rs10515399	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11948270	0.98[ASN][1000 genomes]
rs11950165	0.91[ASN][1000 genomes]
rs11960268	0.98[ASN][1000 genomes]
rs11960336	0.98[ASN][1000 genomes]
rs12152788	0.80[EUR][1000 genomes]
rs12188107	0.80[EUR][1000 genomes]
rs28733366	0.87[ASN][1000 genomes]
rs3797818	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3797819	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3797820	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3797821	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3797823	0.93[ASN][1000 genomes]
rs3797825	0.97[ASN][1000 genomes]
rs4404726	0.87[ASN][1000 genomes]
rs4957793	0.98[ASN][1000 genomes]
rs56083128	0.80[EUR][1000 genomes]
rs56121551	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57814250	1.00[ASN][1000 genomes]
rs58647764	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58729959	0.98[ASN][1000 genomes]
rs60834821	0.87[ASN][1000 genomes]
rs66623856	0.90[ASN][1000 genomes]
rs66851282	0.98[ASN][1000 genomes]
rs67053762	0.93[ASN][1000 genomes]
rs67586696	0.91[ASN][1000 genomes]
rs6861439	0.83[ASN][1000 genomes]
rs6872299	0.98[ASN][1000 genomes]
rs6882759	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6884648	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6886017	0.80[EUR][1000 genomes]
rs6893501	0.98[ASN][1000 genomes]
rs6893984	0.98[ASN][1000 genomes]
rs72793921	0.91[ASN][1000 genomes]
rs73209364	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73209368	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73211525	0.86[AFR][1000 genomes]
rs73211527	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211528	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211549	0.90[AFR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73211553	0.85[AFR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73211559	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73211560	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73778332	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs73778336	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73778344	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73778358	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73778393	0.80[EUR][1000 genomes]
rs73781919	0.80[EUR][1000 genomes]
rs7719229	0.80[EUR][1000 genomes]
rs7719638	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7723580	0.80[EUR][1000 genomes]
rs7723942	0.90[ASN][1000 genomes]
rs7731116	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7731221	0.96[ASN][1000 genomes]
rs7732335	0.90[ASN][1000 genomes]
rs7732510	0.90[ASN][1000 genomes]
rs7734092	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7734110	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7735749	0.98[ASN][1000 genomes]
rs9688214	0.80[EUR][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	nsv525993	chr5:108288345-108299744	Strong transcription Enhancers Weak transcription	miRNA target site	n/a	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:108203800-108323400	Weak transcription	Primary B cells from cord blood	blood
2	chr5:108217600-108323200	Weak transcription	Left Ventricle	heart
3	chr5:108230200-108302400	Weak transcription	HSMM	muscle
4	chr5:108254000-108311200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:108268400-108301400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:108277600-108322400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr5:108278000-108308200	Weak transcription	Fetal Kidney	kidney
8	chr5:108279200-108302600	Weak transcription	Ovary	ovary
9	chr5:108279200-108325600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:108281000-108302400	Weak transcription	Dnd41	blood
11	chr5:108281000-108302600	Weak transcription	HMEC	breast
12	chr5:108281000-108313400	Weak transcription	Adipose Nuclei	Adipose
13	chr5:108281200-108302600	Weak transcription	Brain Angular Gyrus	brain
14	chr5:108282200-108324600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:108282400-108327200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr5:108283400-108319000	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr5:108287800-108310000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr5:108289200-108309200	Weak transcription	Hela-S3	cervix
19	chr5:108289200-108318600	Weak transcription	NHDF-Ad	bronchial
20	chr5:108290000-108313600	Weak transcription	Aorta	Aorta
21	chr5:108290000-108322000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr5:108290000-108328800	Weak transcription	Esophagus	oesophagus
23	chr5:108292600-108302600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr5:108293400-108303400	Weak transcription	Fetal Lung	lung
25	chr5:108293400-108325600	Weak transcription	NHEK	skin
26	chr5:108294000-108302600	Weak transcription	Liver	Liver
27	chr5:108294200-108301200	Weak transcription	Fetal Brain Male	brain
28	chr5:108294400-108329400	Weak transcription	Brain Hippocampus Middle	brain
29	chr5:108295000-108297600	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr5:108295200-108319400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr5:108295800-108302400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr5:108295800-108316600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr5:108296600-108307800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr5:108296600-108311800	Weak transcription	HSMMtube	muscle
35	chr5:108297000-108313400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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