Variant report

Variant	rs7157718
Chromosome Location	chr14:67168302-67168303
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10083467	1.00[EUR][1000 genomes]
rs10083471	1.00[EUR][1000 genomes]
rs10129735	0.81[AMR][1000 genomes]
rs10131927	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10132764	0.84[AMR][1000 genomes]
rs10138234	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10141378	1.00[EUR][1000 genomes]
rs10151875	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12323823	1.00[EUR][1000 genomes]
rs13379426	1.00[EUR][1000 genomes]
rs1957296	1.00[EUR][1000 genomes]
rs1980573	1.00[EUR][1000 genomes]
rs28436247	1.00[EUR][1000 genomes]
rs28463655	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28724292	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28790342	1.00[EUR][1000 genomes]
rs3759754	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57598468	1.00[EUR][1000 genomes]
rs57791782	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59831188	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60535068	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60937187	1.00[EUR][1000 genomes]
rs61410439	1.00[EUR][1000 genomes]
rs7150227	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7153345	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73277851	0.84[AMR][1000 genomes]
rs73279728	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73279748	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73279779	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73279798	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73279801	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73285916	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74056520	1.00[EUR][1000 genomes]
rs74057215	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74057259	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74057270	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74057844	1.00[EUR][1000 genomes]
rs8004619	0.84[AMR][1000 genomes]
rs9806103	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3385263	chr14:66514718-67511481	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv525460	chr14:66851185-67626594	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	esv2755473	chr14:66962747-67177647	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv916205	chr14:67078849-67351687	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv1834170	chr14:67103140-67527235	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv1840424	chr14:67103579-67186037	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv564955	chr14:67103579-67234710	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv2829998	chr14:67103579-67626594	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv902032	chr14:67129438-67193023	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
10	nsv902033	chr14:67129438-67201176	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	nsv564956	chr14:67139055-67268008	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv902034	chr14:67140676-67186037	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
13	esv1841470	chr14:67140676-67335425	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv902035	chr14:67140676-67336479	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv915868	chr14:67146757-67351687	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	nsv902036	chr14:67146763-67186037	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
17	nsv902037	chr14:67146763-67193023	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
18	nsv902038	chr14:67146763-67298170	ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
19	nsv902039	chr14:67147286-67186037	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
20	nsv902040	chr14:67147286-67193023	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
21	nsv902041	chr14:67147816-67186037	Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67146000-67172000	Weak transcription	Liver	Liver
2	chr14:67148800-67169400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr14:67157600-67174800	Weak transcription	HepG2	liver
4	chr14:67166600-67170600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr14:67168000-67168400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr14:67168200-67168400	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr14:67168200-67168400	ZNF genes & repeats	Esophagus	oesophagus
8	chr14:67168200-67168600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr14:67168200-67168600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr14:67168200-67168600	Enhancers	NHEK	skin
11	chr14:67168200-67168800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr14:67168200-67168800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr14:67168200-67168800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr14:67168200-67168800	ZNF genes & repeats	Fetal Intestine Small	intestine
15	chr14:67168200-67168800	ZNF genes & repeats	Lung	lung
16	chr14:67168200-67169000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr14:67168200-67169000	Enhancers	HMEC	breast

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