Variant report

Variant	rs60649741
Chromosome Location	chr8:119448664-119448665
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10090978	1.00[ASN][1000 genomes]
rs10095856	1.00[ASN][1000 genomes]
rs10505340	1.00[ASN][1000 genomes]
rs10505341	1.00[ASN][1000 genomes]
rs17682473	1.00[ASN][1000 genomes]
rs17749697	1.00[ASN][1000 genomes]
rs2030454	1.00[ASN][1000 genomes]
rs41423651	1.00[ASN][1000 genomes]
rs4641102	1.00[ASN][1000 genomes]
rs55666480	1.00[ASN][1000 genomes]
rs56206420	1.00[ASN][1000 genomes]
rs56234774	1.00[ASN][1000 genomes]
rs56707073	1.00[ASN][1000 genomes]
rs56978296	1.00[ASN][1000 genomes]
rs58370206	1.00[ASN][1000 genomes]
rs59704871	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60042461	1.00[ASN][1000 genomes]
rs60695012	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62531915	1.00[ASN][1000 genomes]
rs62531917	1.00[ASN][1000 genomes]
rs62531929	1.00[ASN][1000 genomes]
rs62531930	1.00[ASN][1000 genomes]
rs62533399	1.00[ASN][1000 genomes]
rs6987819	1.00[ASN][1000 genomes]
rs73313463	1.00[ASN][1000 genomes]
rs73319373	1.00[ASN][1000 genomes]
rs73319376	1.00[ASN][1000 genomes]
rs73319379	1.00[ASN][1000 genomes]
rs73319388	1.00[ASN][1000 genomes]
rs73319391	1.00[ASN][1000 genomes]
rs73319397	1.00[ASN][1000 genomes]
rs73319402	1.00[ASN][1000 genomes]
rs73321307	1.00[ASN][1000 genomes]
rs73321311	1.00[ASN][1000 genomes]
rs73321314	1.00[ASN][1000 genomes]
rs73321315	1.00[ASN][1000 genomes]
rs73708330	1.00[ASN][1000 genomes]
rs73708331	1.00[ASN][1000 genomes]
rs73708333	1.00[ASN][1000 genomes]
rs73708494	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73708496	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73710214	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73710217	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7817162	1.00[ASN][1000 genomes]
rs7830872	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv612047	chr8:118939094-119468609	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1032681	chr8:119153316-119609948	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv539737	chr8:119153316-119609948	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv1016379	chr8:119164234-119448910	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv831443	chr8:119390590-119590662	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119434800-119451800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:119442200-119449200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:119445600-119450600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr8:119446000-119450000	Weak transcription	NHDF-Ad	bronchial
5	chr8:119446000-119450800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr8:119446200-119450400	Weak transcription	Osteobl	bone
7	chr8:119446400-119449600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr8:119446400-119450400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:119446400-119451000	Weak transcription	NHLF	lung
10	chr8:119446800-119452200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr8:119446800-119452200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr8:119447000-119452200	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr8:119447400-119450800	Weak transcription	GM12878-XiMat	blood
14	chr8:119447800-119450200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr8:119448000-119449200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:119448000-119452000	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr8:119448000-119456200	Enhancers	HUVEC	blood vessel
18	chr8:119448400-119452200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr8:119448600-119454200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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