Variant report

Variant	rs4349948
Chromosome Location	chr8:10442039-10442040
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10093550	1.00[EUR][1000 genomes]
rs28625845	1.00[EUR][1000 genomes]
rs4077903	1.00[EUR][1000 genomes]
rs4452762	1.00[EUR][1000 genomes]
rs56020877	1.00[EUR][1000 genomes]
rs57580421	1.00[EUR][1000 genomes]
rs58046990	1.00[EUR][1000 genomes]
rs58060783	1.00[EUR][1000 genomes]
rs58667747	1.00[EUR][1000 genomes]
rs59019446	1.00[EUR][1000 genomes]
rs59205544	1.00[EUR][1000 genomes]
rs59338305	1.00[EUR][1000 genomes]
rs59383863	1.00[EUR][1000 genomes]
rs59891547	1.00[EUR][1000 genomes]
rs59974525	1.00[EUR][1000 genomes]
rs60441085	1.00[EUR][1000 genomes]
rs61056554	1.00[EUR][1000 genomes]
rs61073299	1.00[EUR][1000 genomes]
rs61213977	1.00[EUR][1000 genomes]
rs61742975	1.00[EUR][1000 genomes]
rs6992420	1.00[EUR][1000 genomes]
rs6999508	1.00[EUR][1000 genomes]
rs7018069	1.00[EUR][1000 genomes]
rs73537536	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73539548	1.00[EUR][1000 genomes]
rs73539556	1.00[EUR][1000 genomes]
rs73662604	1.00[EUR][1000 genomes]
rs73662869	1.00[EUR][1000 genomes]
rs73662874	1.00[EUR][1000 genomes]
rs7831579	1.00[EUR][1000 genomes]
rs7845069	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030934	chr8:10065169-10561161	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1022994	chr8:10190618-10660122	Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv539466	chr8:10190618-10660122	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1025557	chr8:10216726-10555187	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv610267	chr8:10268736-10526742	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv610268	chr8:10331636-10486652	Bivalent Enhancer Enhancers Weak transcription Strong transcription 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	11 gene(s)	inside rSNPs	diseases
8	nsv1025251	chr8:10343591-10488557	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
9	nsv1015932	chr8:10357101-10597856	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
10	nsv610269	chr8:10416017-10461484	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv465462	chr8:10418039-10444137	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv610270	chr8:10418039-10444137	Enhancers Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv610271	chr8:10438796-10459203	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	esv275278	chr8:10439036-10444775	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv890351	chr8:10439902-10482372	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA 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	chr8:10439000-10453000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:10439400-10443000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr8:10439800-10445400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:10440000-10442800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr8:10440200-10445000	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr8:10440400-10442800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr8:10440400-10444800	Weak transcription	Liver	Liver
8	chr8:10441000-10442800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
9	chr8:10441400-10443000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:10441600-10442800	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr8:10441600-10443400	Enhancers	Fetal Muscle Leg	muscle
12	chr8:10441800-10442600	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr8:10441800-10443400	Enhancers	Placenta	Placenta
14	chr8:10442000-10442400	Enhancers	Psoas Muscle	Psoas
15	chr8:10442000-10443400	Enhancers	HUVEC	blood vessel

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