Variant report

Variant	rs73541496
Chromosome Location	chr8:10539079-10539080
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr8:10538248-10539118	MCF-7	breast:	n/a	chr8:10538952-10538959
2	MAX	chr8:10538067-10539110	A549	lung:	n/a	n/a
3	TCF7L2	chr8:10537996-10539397	Hela-S3	cervix:	n/a	n/a
4	SMARCB1	chr8:10538005-10539526	Hela-S3	cervix:	n/a	n/a
5	GATA3	chr8:10538088-10539273	A549	lung:	n/a	chr8:10538952-10538959
6	SMARCC1	chr8:10538014-10539660	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:10537022..10539383-chr8:10695484..10697412,2	K562	blood:

Variant related genes	Relation type
RNA5SP252	TF binding region
ENSG00000254093	Chromatin interaction
ENSG00000258724	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10094968	0.94[ASN][1000 genomes]
rs10097577	0.94[ASN][1000 genomes]
rs10098956	0.87[ASN][1000 genomes]
rs10107820	0.94[ASN][1000 genomes]
rs10216539	0.81[ASN][1000 genomes]
rs11990311	0.94[ASN][1000 genomes]
rs12680711	0.81[ASN][1000 genomes]
rs28463918	0.81[ASN][1000 genomes]
rs28488675	1.00[ASN][1000 genomes]
rs28665435	0.81[ASN][1000 genomes]
rs34043696	0.81[ASN][1000 genomes]
rs59276210	0.87[ASN][1000 genomes]
rs60270701	0.81[ASN][1000 genomes]
rs60410697	0.81[ASN][1000 genomes]
rs60672851	0.87[ASN][1000 genomes]
rs6601505	0.87[ASN][1000 genomes]
rs6601507	0.87[ASN][1000 genomes]
rs6601508	0.87[ASN][1000 genomes]
rs6991320	0.81[ASN][1000 genomes]
rs7002378	0.87[ASN][1000 genomes]
rs7003456	0.87[ASN][1000 genomes]
rs7006325	0.94[ASN][1000 genomes]
rs73530796	0.94[ASN][1000 genomes]
rs73532605	0.94[ASN][1000 genomes]
rs73532619	0.87[ASN][1000 genomes]
rs73532620	0.87[ASN][1000 genomes]
rs73532622	0.87[ASN][1000 genomes]
rs73536579	0.81[ASN][1000 genomes]
rs73541440	0.87[ASN][1000 genomes]
rs73541442	0.87[ASN][1000 genomes]
rs73541445	0.87[ASN][1000 genomes]
rs7815184	0.81[ASN][1000 genomes]
rs7820334	0.81[ASN][1000 genomes]
rs7822666	0.81[ASN][1000 genomes]
rs7827623	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs7828426	0.94[ASN][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	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
7	nsv1021048	chr8:10504395-10591896	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
8	nsv515898	chr8:10530037-10557407	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	nsv527184	chr8:10530037-10589913	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
10	nsv465463	chr8:10535826-10567630	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
11	nsv610272	chr8:10535826-10567630	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
12	nsv1028266	chr8:10537081-10586112	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
13	nsv1034829	chr8:10537081-10591896	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
14	nsv465464	chr8:10537940-10565263	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
15	nsv610273	chr8:10537940-10565263	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10536200-10540600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr8:10536800-10539200	Enhancers	NHEK	skin
3	chr8:10536800-10541800	Enhancers	Spleen	Spleen
4	chr8:10537000-10539200	Flanking Active TSS	Hela-S3	cervix
5	chr8:10537000-10542000	Enhancers	Esophagus	oesophagus
6	chr8:10537600-10539400	Enhancers	HUVEC	blood vessel
7	chr8:10537600-10539600	Enhancers	Gastric	stomach
8	chr8:10537800-10539200	Enhancers	Brain Germinal Matrix	brain
9	chr8:10538000-10539200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:10538000-10539200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
11	chr8:10538000-10539200	Bivalent Enhancer	Stomach Mucosa	stomach
12	chr8:10538000-10539200	Flanking Active TSS	A549	lung
13	chr8:10538000-10539400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr8:10538000-10539400	Enhancers	HMEC	breast
15	chr8:10538000-10539600	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr8:10538000-10539800	Enhancers	Lung	lung
17	chr8:10538200-10539200	Enhancers	Duodenum Mucosa	Duodenum
18	chr8:10538200-10540200	Enhancers	Pancreas	Pancrea
19	chr8:10539000-10539400	Bivalent Enhancer	Right Ventricle	heart
20	chr8:10539000-10542800	Weak transcription	Liver	Liver

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