Variant report

Variant	rs4409373
Chromosome Location	chr8:105085636-105085637
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10091672	0.82[ASN][1000 genomes]
rs11991865	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13254823	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1344068	0.83[EUR][1000 genomes]
rs16870935	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16870992	0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2441835	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2511632	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs28604952	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28606600	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4276655	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4439090	0.95[EUR][1000 genomes]
rs4487720	0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6468901	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6468904	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7008904	0.90[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs7461951	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7812535	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7813596	0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752692	chr8:104520824-105123824	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv1031195	chr8:104601231-105194208	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
3	nsv831415	chr8:104907757-105115320	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv465753	chr8:104956705-105136549	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv611833	chr8:104956705-105136549	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv611834	chr8:105016866-105140610	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv891250	chr8:105023672-105125672	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv1847227	chr8:105025912-105251147	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv891251	chr8:105054446-105283340	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105084200-105086400	Enhancers	HMEC	breast
2	chr8:105084400-105086000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr8:105084600-105085800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr8:105084600-105085800	Enhancers	NHEK	skin
5	chr8:105084600-105090400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr8:105085000-105087000	Weak transcription	Fetal Heart	heart
7	chr8:105085200-105087400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr8:105085200-105088000	Weak transcription	Brain Hippocampus Middle	brain
9	chr8:105085200-105095200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr8:105085200-105113600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:105085600-105085800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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