Variant report

Variant	rs8180514
Chromosome Location	chr5:93780519-93780520
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1582387	0.86[ASW][hapmap];0.91[CEU][hapmap];0.81[CHB][hapmap];0.84[CHD][hapmap];0.86[TSI][hapmap];0.88[EUR][1000 genomes]
rs1833335	1.00[CEU][hapmap];0.80[CHB][hapmap];0.85[YRI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs183728	0.87[EUR][1000 genomes]
rs1861807	1.00[CEU][hapmap];0.81[CHB][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs29907	0.88[EUR][1000 genomes]
rs29908	0.88[EUR][1000 genomes]
rs29911	0.82[CHD][hapmap];0.88[EUR][1000 genomes]
rs29912	0.86[ASW][hapmap];0.91[CEU][hapmap];0.81[CHD][hapmap];0.82[MEX][hapmap];0.86[TSI][hapmap];0.88[EUR][1000 genomes]
rs29926	0.84[EUR][1000 genomes]
rs29928	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs29929	0.86[EUR][1000 genomes]
rs507793	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs55652444	0.91[EUR][1000 genomes]
rs59111087	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61174820	0.91[EUR][1000 genomes]
rs62364602	0.88[EUR][1000 genomes]
rs62364604	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62364605	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023191	chr5:93351646-93947928	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv537808	chr5:93351646-93947928	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	esv2753025	chr5:93356544-93812844	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1027890	chr5:93584978-93873704	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
5	nsv537809	chr5:93584978-93873704	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
6	nsv518161	chr5:93643170-93789309	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv523867	chr5:93643170-93789309	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv598950	chr5:93666346-93788579	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv1023421	chr5:93679661-93911066	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Weak transcription Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
10	nsv1033608	chr5:93741558-93812885	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv2758002	chr5:93765205-94042201	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
12	esv2759354	chr5:93765205-94042201	Active TSS ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:93769600-93783800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr5:93773200-93781600	Weak transcription	Fetal Muscle Leg	muscle
3	chr5:93773200-93783400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr5:93775400-93808600	Weak transcription	Left Ventricle	heart
5	chr5:93776200-93787800	Weak transcription	Fetal Lung	lung
6	chr5:93776400-93811400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr5:93777400-93782800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr5:93778800-93780800	Weak transcription	Hela-S3	cervix
9	chr5:93780000-93783000	Weak transcription	Fetal Brain Male	brain
10	chr5:93780000-93799600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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