Variant report

Variant	rs10254331
Chromosome Location	chr7:80909708-80909709
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 116 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs10241623	1.00[ASN][1000 genomes]
rs10241793	1.00[ASN][1000 genomes]
rs10245449	1.00[ASN][1000 genomes]
rs10275669	1.00[ASN][1000 genomes]
rs1029493	1.00[ASN][1000 genomes]
rs1029494	1.00[ASN][1000 genomes]
rs11761451	1.00[ASN][1000 genomes]
rs11770496	1.00[ASN][1000 genomes]
rs11771361	1.00[ASN][1000 genomes]
rs11773641	1.00[ASN][1000 genomes]
rs12707335	1.00[ASN][1000 genomes]
rs12707336	1.00[ASN][1000 genomes]
rs12707337	1.00[ASN][1000 genomes]
rs12707338	1.00[ASN][1000 genomes]
rs13229188	1.00[ASN][1000 genomes]
rs13246684	1.00[ASN][1000 genomes]
rs13247272	1.00[ASN][1000 genomes]
rs1397014	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1509914	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1509915	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1509916	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17154960	1.00[ASN][1000 genomes]
rs17154968	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17154971	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17154974	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17154980	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17155004	1.00[ASN][1000 genomes]
rs17155008	1.00[ASN][1000 genomes]
rs17625910	1.00[ASN][1000 genomes]
rs1812970	0.84[EUR][1000 genomes]
rs1848788	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1848789	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1848790	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1912365	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2136609	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2189563	1.00[ASN][1000 genomes]
rs2189564	1.00[ASN][1000 genomes]
rs2214550	1.00[ASN][1000 genomes]
rs2262986	0.92[EUR][1000 genomes]
rs2262987	1.00[ASN][1000 genomes]
rs2262988	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2525775	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2525776	0.84[EUR][1000 genomes]
rs2525777	0.84[EUR][1000 genomes]
rs2525778	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2525781	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2525782	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2525783	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2525785	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2525786	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2525788	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2525789	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2525790	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2525794	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2664840	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2664842	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2664843	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2664844	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2664847	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2664848	0.84[EUR][1000 genomes]
rs2664849	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2664850	0.84[EUR][1000 genomes]
rs2839799	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs325977	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs325978	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs325979	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs325980	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs325983	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs325985	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs325988	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35315784	1.00[ASN][1000 genomes]
rs35786870	1.00[ASN][1000 genomes]
rs57688291	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57801190	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58355397	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58557721	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59574622	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59748947	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60587791	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60806663	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61420690	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61705873	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6944017	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6956118	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6957571	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6963937	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6973407	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6976487	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6979842	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6979856	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73380421	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73380423	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73380440	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73380442	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73380451	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73380464	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73382432	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73709691	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7783631	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7785746	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7790316	1.00[ASN][1000 genomes]
rs7792835	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7812268	1.00[ASN][1000 genomes]
rs976329	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034690	chr7:80520004-80987682	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv831044	chr7:80721773-80918591	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv888557	chr7:80813081-80917148	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1023149	chr7:80817550-80928090	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1029034	chr7:80838012-81137146	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv831045	chr7:80841693-81012404	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv888558	chr7:80844667-80917148	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv607686	chr7:80857196-80917148	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv464608	chr7:80866153-80938045	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv607687	chr7:80866153-80938045	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv888559	chr7:80870379-80917148	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv607688	chr7:80870379-80947517	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80909000-80910200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:80909200-80910200	Enhancers	NHEK	skin
3	chr7:80909200-80910600	Enhancers	HMEC	breast
4	chr7:80909400-80910000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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