Variant report

Variant	rs218980
Chromosome Location	chr7:11011219-11011220
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr7:11011215-11011423	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:11007370..11009612-chr7:11011024..11013340,2	MCF-7	breast:
2	chr7:11005901..11008185-chr7:11010044..11012149,2	K562	blood:
3	chr7:10996449..11000162-chr7:11009366..11013332,3	K562	blood:
4	chr7:11010971..11012619-chr7:11259384..11261240,2	MCF-7	breast:
5	chr7:10975906..10982429-chr7:11007978..11018673,26	K562	blood:

No data

Variant related genes	Relation type
PHF14	TF binding region
ENSG00000271185	Chromatin interaction
ENSG00000189043	Chromatin interaction

Extended variants
information (count: 113 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs10236024	0.87[ASN][1000 genomes]
rs10255688	0.84[ASN][1000 genomes]
rs1154920	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1154922	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11762175	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12112674	0.85[ASN][1000 genomes]
rs13227933	0.84[ASN][1000 genomes]
rs13238887	0.84[ASN][1000 genomes]
rs13241511	0.85[ASN][1000 genomes]
rs1483201	0.91[ASN][1000 genomes]
rs1483203	0.91[ASN][1000 genomes]
rs1483204	0.91[ASN][1000 genomes]
rs1483205	0.92[ASN][1000 genomes]
rs1531834	0.91[ASN][1000 genomes]
rs1629587	0.95[ASN][1000 genomes]
rs1636753	0.93[ASN][1000 genomes]
rs1636754	0.96[ASN][1000 genomes]
rs1636755	0.95[ASN][1000 genomes]
rs1636756	0.96[ASN][1000 genomes]
rs1636757	0.96[ASN][1000 genomes]
rs1640700	1.00[ASN][1000 genomes]
rs1640707	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1640710	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1681281	0.96[ASN][1000 genomes]
rs1681284	0.97[ASN][1000 genomes]
rs1681298	0.84[AFR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1681300	0.84[AFR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1681302	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1681305	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1681310	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1681312	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1833011	0.84[ASN][1000 genomes]
rs190073	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2108111	0.96[ASN][1000 genomes]
rs2108114	0.86[ASN][1000 genomes]
rs218968	0.80[AFR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs218975	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs218981	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2190294	0.92[ASN][1000 genomes]
rs2190295	0.92[ASN][1000 genomes]
rs220089	0.95[ASN][1000 genomes]
rs220090	0.96[ASN][1000 genomes]
rs220092	0.96[ASN][1000 genomes]
rs220093	0.96[ASN][1000 genomes]
rs2214858	0.92[ASN][1000 genomes]
rs2539823	0.86[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs2906543	0.84[ASN][1000 genomes]
rs2906544	0.84[ASN][1000 genomes]
rs2906545	0.84[ASN][1000 genomes]
rs2906546	0.84[ASN][1000 genomes]
rs2906547	0.84[ASN][1000 genomes]
rs2906548	0.83[ASN][1000 genomes]
rs2906549	0.82[ASN][1000 genomes]
rs2906550	0.84[ASN][1000 genomes]
rs2906551	0.84[ASN][1000 genomes]
rs2906552	0.84[ASN][1000 genomes]
rs2906553	0.84[ASN][1000 genomes]
rs2906554	0.83[ASN][1000 genomes]
rs2906555	0.84[ASN][1000 genomes]
rs2906556	0.84[ASN][1000 genomes]
rs2906558	0.84[ASN][1000 genomes]
rs2906559	0.84[ASN][1000 genomes]
rs2906560	0.84[ASN][1000 genomes]
rs2906561	0.84[ASN][1000 genomes]
rs2906562	0.84[ASN][1000 genomes]
rs2906563	0.84[ASN][1000 genomes]
rs2906564	0.84[ASN][1000 genomes]
rs2906565	0.82[ASN][1000 genomes]
rs2906566	0.86[ASN][1000 genomes]
rs2995878	0.84[ASN][1000 genomes]
rs2995879	0.84[ASN][1000 genomes]
rs2995880	0.84[ASN][1000 genomes]
rs2995881	0.84[ASN][1000 genomes]
rs2995884	0.84[ASN][1000 genomes]
rs2995886	0.81[ASN][1000 genomes]
rs2995898	0.84[ASN][1000 genomes]
rs2995901	0.84[ASN][1000 genomes]
rs2995902	0.84[ASN][1000 genomes]
rs2995903	0.84[ASN][1000 genomes]
rs35580506	0.85[ASN][1000 genomes]
rs3801437	0.96[ASN][1000 genomes]
rs3801453	0.84[ASN][1000 genomes]
rs3823875	0.90[ASN][1000 genomes]
rs4314555	0.84[ASN][1000 genomes]
rs4342485	0.96[ASN][1000 genomes]
rs4534044	0.84[ASN][1000 genomes]
rs6460785	0.84[ASN][1000 genomes]
rs6943379	0.96[ASN][1000 genomes]
rs6954805	0.83[ASN][1000 genomes]
rs6957940	0.84[ASN][1000 genomes]
rs6968425	0.86[ASN][1000 genomes]
rs6973228	0.96[ASN][1000 genomes]
rs7781258	0.84[ASN][1000 genomes]
rs7785008	0.84[ASN][1000 genomes]
rs7791995	0.96[ASN][1000 genomes]
rs8180695	0.91[ASN][1000 genomes]
rs922901	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9986755	0.95[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	nsv1067780	chr7:10649696-11329787	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv491695	chr7:10649696-11329787	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1019888	chr7:10712858-11496785	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1029836	chr7:10713523-11492751	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv538730	chr7:10713523-11492751	Weak transcription Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv532092	chr7:10731350-11414759	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
7	nsv887600	chr7:10807685-11090546	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv1024171	chr7:10810444-11559156	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
9	nsv949387	chr7:10815994-11281536	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	esv2752140	chr7:10817060-11029748	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
11	nsv1029882	chr7:10872162-11371145	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
12	nsv817291	chr7:10875417-11562683	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
13	nsv1031498	chr7:10882696-11110412	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
14	nsv887601	chr7:10912949-11049523	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
15	esv3447442	chr7:10985761-11013298	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11005400-11012400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr7:11011000-11012800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr7:11011200-11012400	Weak transcription	Dnd41	blood

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