Variant report

Variant	rs2569651
Chromosome Location	chr19:40609447-40609448
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:40609064..40610843-chr19:40611318..40613002,2	K562	blood:
2	chr19:40595283..40597006-chr19:40608799..40611391,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197782	Chromatin interaction
ENSG00000269749	Chromatin interaction
ENSG00000269296	Chromatin interaction

Extended variants
information (count: 112 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:108)

rs_ID	r²[population]
rs10401980	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10406471	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1327185	0.94[ASN][1000 genomes]
rs1327187	0.89[ASN][1000 genomes]
rs1327188	0.93[ASN][1000 genomes]
rs1327189	0.92[ASN][1000 genomes]
rs1327190	0.92[ASN][1000 genomes]
rs1327191	0.92[ASN][1000 genomes]
rs1327192	0.92[ASN][1000 genomes]
rs1327193	0.92[ASN][1000 genomes]
rs13344062	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs163213	0.81[ASN][1000 genomes]
rs16974093	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17797100	0.91[ASN][1000 genomes]
rs1854098	0.94[ASN][1000 genomes]
rs186815	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1926931	0.80[ASN][1000 genomes]
rs1926932	0.80[ASN][1000 genomes]
rs1926933	0.80[ASN][1000 genomes]
rs1926934	0.80[ASN][1000 genomes]
rs1998931	0.92[ASN][1000 genomes]
rs24135	0.94[ASN][1000 genomes]
rs24136	0.94[ASN][1000 genomes]
rs24137	0.94[ASN][1000 genomes]
rs2569639	0.92[ASN][1000 genomes]
rs2569640	0.92[ASN][1000 genomes]
rs2569641	0.92[ASN][1000 genomes]
rs2569642	0.92[ASN][1000 genomes]
rs2569643	0.94[ASN][1000 genomes]
rs2569644	0.94[ASN][1000 genomes]
rs2569645	0.94[ASN][1000 genomes]
rs2569648	0.94[ASN][1000 genomes]
rs2569649	0.94[ASN][1000 genomes]
rs2569650	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2767592	0.94[ASN][1000 genomes]
rs2767593	0.94[ASN][1000 genomes]
rs2767594	0.93[ASN][1000 genomes]
rs2767595	0.94[ASN][1000 genomes]
rs2767596	0.94[ASN][1000 genomes]
rs2767597	0.94[ASN][1000 genomes]
rs2767598	0.94[ASN][1000 genomes]
rs2767601	0.91[ASN][1000 genomes]
rs2767603	0.92[ASN][1000 genomes]
rs2767604	0.94[ASN][1000 genomes]
rs2767605	0.94[ASN][1000 genomes]
rs2767606	0.94[ASN][1000 genomes]
rs2767607	0.94[ASN][1000 genomes]
rs2767608	0.94[ASN][1000 genomes]
rs2767609	0.94[ASN][1000 genomes]
rs2819955	0.94[ASN][1000 genomes]
rs2819958	0.92[ASN][1000 genomes]
rs28629274	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28890790	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2915972	0.92[ASN][1000 genomes]
rs2970102	0.94[ASN][1000 genomes]
rs2986595	0.80[ASN][1000 genomes]
rs3000956	0.81[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs337779	0.87[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs337784	0.94[ASN][1000 genomes]
rs337785	0.94[ASN][1000 genomes]
rs337786	0.94[ASN][1000 genomes]
rs337787	0.94[ASN][1000 genomes]
rs337788	0.94[ASN][1000 genomes]
rs337789	0.94[ASN][1000 genomes]
rs337790	0.94[ASN][1000 genomes]
rs337791	0.93[ASN][1000 genomes]
rs337792	0.94[ASN][1000 genomes]
rs337793	0.94[ASN][1000 genomes]
rs337794	0.94[ASN][1000 genomes]
rs337798	0.83[ASN][1000 genomes]
rs337799	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs337800	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs337801	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs416283	0.81[ASN][1000 genomes]
rs420579	0.81[ASN][1000 genomes]
rs421533	0.87[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs426950	0.81[ASN][1000 genomes]
rs459091	0.81[ASN][1000 genomes]
rs57880771	0.80[ASN][1000 genomes]
rs58003479	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58899236	0.94[ASN][1000 genomes]
rs7258974	0.80[ASN][1000 genomes]
rs7259855	0.80[ASN][1000 genomes]
rs7260378	0.80[ASN][1000 genomes]
rs73549825	0.80[ASN][1000 genomes]
rs73549826	0.80[ASN][1000 genomes]
rs73549829	0.80[ASN][1000 genomes]
rs73549833	0.80[ASN][1000 genomes]
rs73549835	0.80[ASN][1000 genomes]
rs73549836	0.80[ASN][1000 genomes]
rs73549877	0.93[ASN][1000 genomes]
rs73551642	0.92[ASN][1000 genomes]
rs73551661	0.91[ASN][1000 genomes]
rs73551662	0.91[ASN][1000 genomes]
rs73551663	0.91[ASN][1000 genomes]
rs73551668	0.91[ASN][1000 genomes]
rs73551674	0.91[ASN][1000 genomes]
rs73551675	0.91[ASN][1000 genomes]
rs73551681	0.91[ASN][1000 genomes]
rs73551683	0.90[ASN][1000 genomes]
rs73551685	0.91[ASN][1000 genomes]
rs73551687	0.91[ASN][1000 genomes]
rs73551688	0.91[ASN][1000 genomes]
rs73551689	0.91[ASN][1000 genomes]
rs73551691	0.91[ASN][1000 genomes]
rs73551695	0.90[ASN][1000 genomes]
rs8103294	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8108793	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917321	chr19:40403192-40694875	Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	esv1826663	chr19:40529943-41023601	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
3	nsv2488	chr19:40593818-40631406	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv911697	chr19:40599603-40711333	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2569651	ZNF780A	cis	lung	GTEx
rs2569651	ZNF780A	cis	Thyroid	GTEx
rs2569651	AC005614.5	cis	lung	GTEx

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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