Variant report

Variant	rs17682473
Chromosome Location	chr8:119430389-119430390
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:119428165..119429775-chr8:119429959..119432245,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10090978	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10095856	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10505340	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10505341	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17682422	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs17749697	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2514593	1.00[JPT][hapmap]
rs2514986	0.84[EUR][1000 genomes]
rs2514990	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs2514993	0.84[EUR][1000 genomes]
rs4512404	1.00[JPT][hapmap]
rs4641102	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs55666480	1.00[ASN][1000 genomes]
rs56206420	1.00[ASN][1000 genomes]
rs56234774	1.00[ASN][1000 genomes]
rs58370206	1.00[ASN][1000 genomes]
rs59704871	1.00[ASN][1000 genomes]
rs60649741	1.00[ASN][1000 genomes]
rs60695012	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]
rs73313463	1.00[ASN][1000 genomes]
rs73319373	1.00[ASN][1000 genomes]
rs73319376	1.00[ASN][1000 genomes]
rs73319379	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[ASN][1000 genomes]
rs73708496	1.00[ASN][1000 genomes]
rs73710214	1.00[ASN][1000 genomes]
rs73710217	1.00[ASN][1000 genomes]
rs7817162	1.00[JPT][hapmap];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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119413600-119431400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr8:119420600-119431200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr8:119428200-119431200	Weak transcription	HUVEC	blood vessel
4	chr8:119428400-119431800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:119428400-119433600	Weak transcription	Fetal Heart	heart
6	chr8:119428600-119431600	Weak transcription	Hela-S3	cervix
7	chr8:119428800-119431200	Weak transcription	NHLF	lung
8	chr8:119429000-119431000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr8:119429000-119431200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr8:119429200-119431000	Weak transcription	A549	lung
11	chr8:119429200-119431200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr8:119429200-119432000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr8:119429600-119431200	Weak transcription	NHDF-Ad	bronchial
14	chr8:119429600-119431200	Weak transcription	Osteobl	bone
15	chr8:119429600-119431400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr8:119429600-119432400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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