Variant report

Variant	rs73530502
Chromosome Location	chr11:71279052-71279053
allele	C/T
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	RUNX3	chr11:71278674-71279105	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:71159116..71165503-chr11:71274687..71279227,9	MCF-7	breast:
2	chr11:71278406..71279386-chr11:71291430..71292089,2	MCF-7	breast:
3	chr11:71278628..71280477-chr11:71289049..71291000,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000248903	TF binding region
ENSG00000254682	Chromatin interaction
ENSG00000172890	Chromatin interaction
ENSG00000172893	Chromatin interaction
ENSG00000249387	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10160376	1.00[EUR][1000 genomes]
rs10160536	1.00[EUR][1000 genomes]
rs10450661	1.00[EUR][1000 genomes]
rs10466698	1.00[EUR][1000 genomes]
rs10466717	1.00[EUR][1000 genomes]
rs11233662	1.00[EUR][1000 genomes]
rs11233679	1.00[EUR][1000 genomes]
rs11233754	1.00[EUR][1000 genomes]
rs11233871	1.00[EUR][1000 genomes]
rs11233901	1.00[EUR][1000 genomes]
rs11233950	1.00[EUR][1000 genomes]
rs11234008	1.00[EUR][1000 genomes]
rs11234009	1.00[EUR][1000 genomes]
rs12270619	1.00[EUR][1000 genomes]
rs12271661	1.00[EUR][1000 genomes]
rs12271811	1.00[EUR][1000 genomes]
rs12271894	1.00[EUR][1000 genomes]
rs12271996	1.00[EUR][1000 genomes]
rs12272475	1.00[EUR][1000 genomes]
rs12272819	1.00[EUR][1000 genomes]
rs12274022	1.00[EUR][1000 genomes]
rs12274073	1.00[EUR][1000 genomes]
rs12274363	1.00[EUR][1000 genomes]
rs12275637	1.00[EUR][1000 genomes]
rs12277617	1.00[EUR][1000 genomes]
rs12277693	1.00[EUR][1000 genomes]
rs12278475	1.00[EUR][1000 genomes]
rs12280295	1.00[EUR][1000 genomes]
rs12281892	1.00[EUR][1000 genomes]
rs12282060	1.00[EUR][1000 genomes]
rs12283407	1.00[EUR][1000 genomes]
rs12283656	1.00[EUR][1000 genomes]
rs12285168	1.00[EUR][1000 genomes]
rs12285189	1.00[EUR][1000 genomes]
rs12285333	1.00[EUR][1000 genomes]
rs12285566	1.00[EUR][1000 genomes]
rs12286197	1.00[EUR][1000 genomes]
rs12286997	1.00[EUR][1000 genomes]
rs12289365	1.00[EUR][1000 genomes]
rs12289373	1.00[EUR][1000 genomes]
rs12291219	1.00[EUR][1000 genomes]
rs12292886	1.00[EUR][1000 genomes]
rs12293132	1.00[EUR][1000 genomes]
rs12294879	1.00[EUR][1000 genomes]
rs12295554	1.00[EUR][1000 genomes]
rs17161531	1.00[EUR][1000 genomes]
rs2298775	1.00[EUR][1000 genomes]
rs28468070	1.00[EUR][1000 genomes]
rs28481909	1.00[EUR][1000 genomes]
rs28655145	1.00[EUR][1000 genomes]
rs3794059	1.00[EUR][1000 genomes]
rs3794061	1.00[EUR][1000 genomes]
rs3814732	1.00[EUR][1000 genomes]
rs56012338	1.00[EUR][1000 genomes]
rs56120850	1.00[EUR][1000 genomes]
rs59601821	1.00[EUR][1000 genomes]
rs61440863	1.00[EUR][1000 genomes]
rs7950991	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
2	nsv468632	chr11:71200320-71289089	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv555402	chr11:71200320-71289089	Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv3372246	chr11:71223101-71435819	Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv825988	chr11:71277262-71294289	ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv975200	chr11:71277624-71280675	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv975851	chr11:71278888-71295301	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71277000-71279200	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr11:71277200-71280400	Enhancers	Adipose Nuclei	Adipose
3	chr11:71277400-71279800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:71277600-71279800	Weak transcription	Left Ventricle	heart
5	chr11:71277600-71280400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr11:71277600-71281600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:71277600-71282800	Weak transcription	Fetal Intestine Small	intestine
8	chr11:71277600-71290400	Weak transcription	Right Atrium	heart
9	chr11:71278000-71279800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr11:71278200-71281600	Weak transcription	Spleen	Spleen
11	chr11:71278400-71279800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr11:71278800-71279200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr11:71278800-71279400	Enhancers	H9 Cell Line	embryonic stem cell
14	chr11:71278800-71279600	Bivalent Enhancer	HepG2	liver
15	chr11:71279000-71279400	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr11:71279000-71280200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr11:71279000-71280600	Enhancers	Fetal Muscle Leg	muscle
18	chr11:71279000-71281200	Enhancers	Fetal Stomach	stomach

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