Variant report

Variant	rs685684
Chromosome Location	chr11:74130719-74130720
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:74130274..74132953-chr11:74151394..74153673,3	MCF-7	breast:
2	chr11:74109288..74111475-chr11:74129211..74131121,2	K562	blood:
3	chr1:116933375..116934897-chr11:74129445..74131433,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000165434	Chromatin interaction
ENSG00000264402	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10793084	0.82[ASN][1000 genomes]
rs10793085	0.82[ASN][1000 genomes]
rs10898988	0.80[ASN][1000 genomes]
rs10898989	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11236106	0.82[ASN][1000 genomes]
rs12274367	0.82[ASN][1000 genomes]
rs12281178	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2509535	0.86[ASN][1000 genomes]
rs3132849	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3862800	0.82[ASN][1000 genomes]
rs484447	0.83[ASN][1000 genomes]
rs515589	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs517303	0.83[ASN][1000 genomes]
rs520701	0.85[ASN][1000 genomes]
rs520837	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs537637	0.95[ASN][1000 genomes]
rs538805	0.86[ASN][1000 genomes]
rs539343	0.82[ASN][1000 genomes]
rs540279	0.82[ASN][1000 genomes]
rs544747	0.84[ASN][1000 genomes]
rs563722	0.86[ASN][1000 genomes]
rs56373920	0.82[ASN][1000 genomes]
rs591372	0.82[ASN][1000 genomes]
rs603502	0.82[ASN][1000 genomes]
rs612040	0.84[ASN][1000 genomes]
rs615593	0.84[ASN][1000 genomes]
rs618993	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61901485	0.82[ASN][1000 genomes]
rs621109	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs621857	0.86[ASN][1000 genomes]
rs629134	0.86[ASN][1000 genomes]
rs633568	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs638656	0.82[ASN][1000 genomes]
rs640500	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs642033	0.85[ASN][1000 genomes]
rs642500	0.86[ASN][1000 genomes]
rs645184	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs658950	0.83[ASN][1000 genomes]
rs670722	0.86[ASN][1000 genomes]
rs670829	0.83[ASN][1000 genomes]
rs671946	0.83[ASN][1000 genomes]
rs684028	0.82[ASN][1000 genomes]
rs692809	0.83[ASN][1000 genomes]
rs693884	0.82[ASN][1000 genomes]
rs694638	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7925353	0.82[ASN][1000 genomes]
rs7947671	0.81[ASN][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	esv2757451	chr11:73842609-74545888	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	esv2759837	chr11:73842609-74557597	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	esv34979	chr11:73878688-74533452	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	esv2758277	chr11:73887567-74557597	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv825994	chr11:73936667-74534455	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
6	nsv555443	chr11:74109166-74180489	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
7	nsv1041154	chr11:74114801-74177909	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74126800-74130800	Enhancers	Fetal Thymus	thymus
2	chr11:74126800-74131000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr11:74127200-74130800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr11:74128400-74131000	Enhancers	Hela-S3	cervix
5	chr11:74128400-74131000	Enhancers	NH-A	brain
6	chr11:74128600-74130800	Enhancers	HUVEC	blood vessel
7	chr11:74129400-74138600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr11:74129400-74141000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr11:74130000-74130800	Enhancers	A549	lung
10	chr11:74130400-74130800	Enhancers	Muscle Satellite Cultured Cells	--
11	chr11:74130400-74140200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr11:74130600-74130800	Enhancers	Esophagus	oesophagus
13	chr11:74130600-74130800	Enhancers	Thymus	Thymus

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