Variant report

Variant	rs73209347
Chromosome Location	chr5:108276641-108276642
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 105 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs11948881	0.84[EUR][1000 genomes]
rs11949066	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11949510	0.84[EUR][1000 genomes]
rs11952227	0.84[EUR][1000 genomes]
rs11952572	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11953198	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11953486	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11954716	0.84[EUR][1000 genomes]
rs11956908	0.84[EUR][1000 genomes]
rs11958918	0.88[EUR][1000 genomes]
rs11959681	0.80[EUR][1000 genomes]
rs11960713	0.80[EUR][1000 genomes]
rs17161573	0.93[ASN][1000 genomes]
rs17161574	0.93[ASN][1000 genomes]
rs3797817	1.00[ASN][1000 genomes]
rs3797822	1.00[ASN][1000 genomes]
rs3851456	0.93[ASN][1000 genomes]
rs3851457	0.84[EUR][1000 genomes]
rs3851458	0.84[EUR][1000 genomes]
rs56134914	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56381733	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56792678	1.00[ASN][1000 genomes]
rs57158292	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57404758	0.88[EUR][1000 genomes]
rs58620246	0.93[ASN][1000 genomes]
rs58642014	1.00[ASN][1000 genomes]
rs59055229	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59923567	1.00[ASN][1000 genomes]
rs61090818	1.00[ASN][1000 genomes]
rs61640970	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6594344	0.80[ASN][1000 genomes]
rs66485253	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66834040	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67145801	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67156774	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67338203	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6872912	0.93[ASN][1000 genomes]
rs72787096	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72787098	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72787099	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72787100	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72787101	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72787102	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72789304	0.88[EUR][1000 genomes]
rs72789305	0.88[EUR][1000 genomes]
rs72789306	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72789307	0.88[EUR][1000 genomes]
rs72789308	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72789309	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72789312	0.86[EUR][1000 genomes]
rs72789313	0.86[EUR][1000 genomes]
rs72789315	0.83[EUR][1000 genomes]
rs72789316	0.84[EUR][1000 genomes]
rs72789319	0.84[EUR][1000 genomes]
rs72789320	0.83[EUR][1000 genomes]
rs72789326	0.84[EUR][1000 genomes]
rs72789332	0.84[EUR][1000 genomes]
rs72789333	0.83[EUR][1000 genomes]
rs72789335	0.84[EUR][1000 genomes]
rs72789341	0.84[EUR][1000 genomes]
rs72789345	0.84[EUR][1000 genomes]
rs72789347	0.84[EUR][1000 genomes]
rs72789348	0.84[EUR][1000 genomes]
rs72789350	0.84[EUR][1000 genomes]
rs72789352	0.83[EUR][1000 genomes]
rs72790510	0.84[EUR][1000 genomes]
rs72790512	0.84[EUR][1000 genomes]
rs72790514	0.84[EUR][1000 genomes]
rs72790515	0.84[EUR][1000 genomes]
rs72793905	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72793906	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72793909	0.81[EUR][1000 genomes]
rs72793918	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72793920	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72793922	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72793923	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72793926	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72793927	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72793930	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72793933	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73209329	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73209333	1.00[ASN][1000 genomes]
rs73209338	1.00[ASN][1000 genomes]
rs73209345	1.00[ASN][1000 genomes]
rs73209352	1.00[ASN][1000 genomes]
rs73209366	1.00[ASN][1000 genomes]
rs73211525	1.00[ASN][1000 genomes]
rs73211537	1.00[ASN][1000 genomes]
rs73211547	1.00[ASN][1000 genomes]
rs73211557	1.00[ASN][1000 genomes]
rs73211567	0.93[ASN][1000 genomes]
rs73211580	0.93[ASN][1000 genomes]
rs73211584	0.80[ASN][1000 genomes]
rs73780769	1.00[ASN][1000 genomes]
rs7713828	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7723264	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7723604	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7723612	1.00[ASN][1000 genomes]
rs7723644	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7734904	0.88[EUR][1000 genomes]
rs7735425	0.88[EUR][1000 genomes]
rs7736915	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[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	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

No data

Chromatin state (count:15 , 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	chr5:108221400-108280600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr5:108230200-108302400	Weak transcription	HSMM	muscle
5	chr5:108244200-108295000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr5:108247200-108277600	Weak transcription	Fetal Lung	lung
7	chr5:108250400-108277600	Weak transcription	Brain Hippocampus Middle	brain
8	chr5:108254000-108311200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:108260600-108277600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr5:108268200-108280800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr5:108268400-108301400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr5:108270600-108289200	Weak transcription	K562	blood
13	chr5:108271200-108278800	Weak transcription	Ovary	ovary
14	chr5:108273400-108278600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr5:108276400-108276800	Enhancers	Fetal Thymus	thymus

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