Variant report

Variant	rs12132761
Chromosome Location	chr1:227897714-227897715
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR2F2	chr1:227897698-227898025	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:227895918..227897799-chr1:227913898..227916573,2	K562	blood:

Variant related genes	Relation type
ZNF847P	TF binding region
ENSG00000143740	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs1045407	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10753436	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10753437	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10799424	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10799428	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10799437	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10799444	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10799445	0.80[AFR][1000 genomes]
rs10916166	0.80[ASN][1000 genomes]
rs10916167	0.80[ASN][1000 genomes]
rs10916173	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10916180	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10916189	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10916199	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11576992	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11581704	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12058246	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12081818	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12097239	0.82[AFR][1000 genomes]
rs12119889	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12120182	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12129704	0.81[EUR][1000 genomes]
rs12129894	0.80[ASN][1000 genomes]
rs12131114	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12133625	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12138198	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12138229	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12140813	0.80[ASN][1000 genomes]
rs12140848	0.80[ASN][1000 genomes]
rs1390401	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1995019	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2172936	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28446171	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2999742	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34421331	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3942992	0.81[EUR][1000 genomes]
rs4379651	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs57158394	0.81[EUR][1000 genomes]
rs61824940	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6426470	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6426471	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6426472	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6656661	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6659012	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6659349	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6669236	0.81[EUR][1000 genomes]
rs6672530	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6678802	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6679855	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6691443	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6694427	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6696239	0.81[EUR][1000 genomes]
rs6698409	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7521812	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7531801	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7538206	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7540382	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7549475	0.80[ASN][1000 genomes]
rs7553531	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9726691	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	nsv1007479	chr1:227695868-227984466	Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv1010605	chr1:227770415-228332690	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
4	nsv945674	chr1:227862668-227899939	Enhancers ZNF genes & repeats Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv32853	chr1:227880116-228806209	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
6	nsv427952	chr1:227881664-228308629	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
7	nsv826908	chr1:227895386-228691100	Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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