Variant report

Variant	rs6571751
Chromosome Location	chr14:21770730-21770731
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:21725773..21728367-chr14:21769503..21772392,2	MCF-7	breast:
2	chr14:21770316..21772335-chr14:21774235..21777152,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10131759	0.84[AMR][1000 genomes]
rs10136056	0.83[CEU][hapmap];0.90[JPT][hapmap];0.84[MEX][hapmap];0.89[TSI][hapmap]
rs10138029	0.84[AMR][1000 genomes]
rs10142653	0.80[AMR][1000 genomes]
rs10152068	0.84[CEU][hapmap];0.83[MEX][hapmap];0.86[AMR][1000 genomes]
rs11847385	0.85[ASN][1000 genomes]
rs11847506	0.85[ASN][1000 genomes]
rs12147271	0.82[AMR][1000 genomes]
rs12433536	0.94[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs12433693	0.84[CEU][hapmap];0.85[AMR][1000 genomes]
rs17197079	0.81[AMR][1000 genomes]
rs17254708	0.89[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs1957413	0.84[CEU][hapmap];0.86[AMR][1000 genomes]
rs28757752	0.82[AMR][1000 genomes]
rs34053371	0.94[ASN][1000 genomes]
rs4468516	0.94[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs4981368	0.94[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs4981370	0.86[AMR][1000 genomes]
rs4981371	0.84[AMR][1000 genomes]
rs4982439	0.84[CEU][hapmap];0.85[AMR][1000 genomes]
rs4982440	0.83[CEU][hapmap];0.85[AMR][1000 genomes]
rs7153570	0.86[AMR][1000 genomes]
rs7154575	0.88[CEU][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7154879	0.84[CEU][hapmap];0.86[AMR][1000 genomes]
rs72678688	0.82[ASN][1000 genomes]
rs762069	0.84[AMR][1000 genomes]
rs8007938	0.80[EUR][1000 genomes]
rs8008315	0.84[AMR][1000 genomes]
rs8018562	0.85[AMR][1000 genomes]
rs8019326	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8021536	0.84[CEU][hapmap];0.86[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530009	chr14:21377022-22044608	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
2	nsv530769	chr14:21407536-22139126	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
3	nsv916319	chr14:21507092-21896590	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv1036762	chr14:21507093-22101805	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
5	nsv541976	chr14:21507093-22101805	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
6	nsv530770	chr14:21526410-21852363	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
7	nsv1043570	chr14:21575068-21899964	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	nsv541977	chr14:21575068-21899964	Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
9	nsv1048032	chr14:21602341-21847247	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
10	nsv541978	chr14:21602341-21847247	Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
11	nsv948957	chr14:21616875-21928338	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
12	nsv1044822	chr14:21659344-21860081	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
13	esv1825348	chr14:21691941-21829404	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
14	nsv1051407	chr14:21692670-21907366	Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
15	nsv541984	chr14:21692670-21907366	Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
16	nsv530010	chr14:21692670-21923767	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
17	nsv428617	chr14:21721165-21871164	Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
18	esv3339520	chr14:21741166-21806074	Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
19	nsv1054778	chr14:21762940-21802579	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs6571751	MFN1	trans	cerebellum	SCAN
rs6571751	TGM1	cis	cerebellum	SCAN
rs6571751	MMP14	cis	parietal	SCAN
rs6571751	LTB4R	cis	cerebellum	SCAN
rs6571751	OR4K14	cis	cerebellum	SCAN
rs6571751	RPGRIP1	cis	multi-tissue	Pritchard
rs6571751	SNORD8	cis	cerebellum	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21767600-21776600	Weak transcription	Placenta	Placenta
2	chr14:21769400-21770800	Enhancers	Primary B cells from peripheral blood	blood
3	chr14:21769400-21776400	Weak transcription	Right Atrium	heart
4	chr14:21769600-21770800	Enhancers	GM12878-XiMat	blood
5	chr14:21769600-21771000	Enhancers	Duodenum Mucosa	Duodenum
6	chr14:21769600-21771600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr14:21769600-21776200	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr14:21770000-21771000	Flanking Active TSS	HepG2	liver
9	chr14:21770000-21775800	Weak transcription	Primary T cells from cord blood	blood
10	chr14:21770200-21770800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr14:21770400-21771000	Enhancers	A549	lung
12	chr14:21770600-21776600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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