Variant report

Variant	rs12464843
Chromosome Location	chr2:212874828-212874829
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10169217	1.00[ASN][1000 genomes]
rs10197270	1.00[CHB][hapmap];0.85[CHD][hapmap]
rs10445808	1.00[CHB][hapmap]
rs10497958	0.92[CEU][hapmap];1.00[CHB][hapmap]
rs11678167	0.80[CEU][hapmap]
rs12373751	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12466520	0.87[ASN][1000 genomes]
rs12470737	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12473708	1.00[CHB][hapmap];0.85[CHD][hapmap]
rs12476163	1.00[CHB][hapmap]
rs12476274	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12477159	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12478950	1.00[CHB][hapmap];0.85[CHD][hapmap]
rs1402716	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1402718	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1464443	1.00[CHB][hapmap];0.83[CHD][hapmap]
rs1473636	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1473637	0.87[ASN][1000 genomes]
rs1473638	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs1521537	0.85[CHD][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs1521550	1.00[CHB][hapmap]
rs1521553	1.00[CHB][hapmap];0.85[CHD][hapmap]
rs1546717	0.85[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs16847568	1.00[CHB][hapmap];0.85[CHD][hapmap]
rs16847575	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16847580	1.00[CHB][hapmap];0.85[CHD][hapmap]
rs17337014	0.85[JPT][hapmap]
rs17343912	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17343932	0.92[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap]
rs17344051	0.85[CHD][hapmap];0.82[MEX][hapmap]
rs17344065	1.00[CHB][hapmap]
rs17415969	1.00[CHB][hapmap];0.85[CHD][hapmap]
rs17416172	1.00[CHB][hapmap]
rs1879637	0.85[JPT][hapmap]
rs2139939	1.00[CHB][hapmap]
rs2139940	1.00[CHB][hapmap]
rs2371444	1.00[CHB][hapmap]
rs4672634	1.00[CHB][hapmap]
rs4672636	1.00[CHB][hapmap];0.83[CHD][hapmap]
rs56993927	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs59081924	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6435684	0.87[ASN][1000 genomes]
rs6435691	1.00[CHB][hapmap]
rs6712126	1.00[CHB][hapmap];0.83[CHD][hapmap]
rs6715981	0.87[ASN][1000 genomes]
rs73087372	0.82[ASN][1000 genomes]
rs7574462	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7582903	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7595560	1.00[ASN][1000 genomes]
rs939645	1.00[CHB][hapmap]
rs960824	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs9678219	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875791	chr2:212824999-212874828	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv875792	chr2:212824999-212896571	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv584343	chr2:212830200-212906355	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1012269	chr2:212837487-212915640	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv525127	chr2:212839046-212916758	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1011572	chr2:212840066-213152279	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv875794	chr2:212842777-212885510	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases
8	nsv875796	chr2:212845292-212874828	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
9	nsv875797	chr2:212847605-212888988	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
10	nsv470513	chr2:212852669-212874828	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
11	nsv875798	chr2:212852669-212961992	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv875799	chr2:212856539-212874828	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
13	nsv875800	chr2:212856539-212896571	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv875801	chr2:212856539-212929014	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv460071	chr2:212860841-212888988	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
16	nsv584344	chr2:212860841-212888988	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
17	nsv460072	chr2:212864338-212891401	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	nsv584345	chr2:212864338-212891401	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	nsv875802	chr2:212867291-213004603	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
20	nsv875803	chr2:212874828-212969560	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12464843	C2orf80	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212874400-212875800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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