Variant report

Variant	rs2569639
Chromosome Location	chr19:40632891-40632892
allele	A/G
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	POLR2A	chr19:40632857-40632970	H1-hESC	embryonic stem cell:	n/a	n/a
2	REST	chr19:40625248-40632939	PANC-1	pancreas:	n/a	chr19:40626980-40626994 chr19:40626974-40626994 chr19:40625568-40625588 chr19:40626975-40626993 chr19:40626974-40626994
3	REST	chr19:40625294-40632914	PANC-1	pancreas:	n/a	chr19:40626980-40626994 chr19:40626974-40626994 chr19:40625568-40625588 chr19:40626975-40626993 chr19:40626974-40626994

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:40627418..40629816-chr19:40630760..40633172,4	K562	blood:

Variant related genes	Relation type
VN1R96P	TF binding region
ENSG00000230086	Chromatin interaction

Extended variants
information (count: 132 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:127)

rs_ID	r²[population]
rs10401980	0.91[ASN][1000 genomes]
rs10406471	0.81[ASN][1000 genomes]
rs1327185	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1327187	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1327188	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1327189	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1327190	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1327191	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1327192	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1327193	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16974093	0.92[ASN][1000 genomes]
rs17797100	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs183504	0.83[EUR][1000 genomes]
rs1854098	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1926931	0.83[ASN][1000 genomes]
rs1926932	0.83[ASN][1000 genomes]
rs1926933	0.83[ASN][1000 genomes]
rs1926934	0.83[ASN][1000 genomes]
rs1998931	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2111543	0.83[EUR][1000 genomes]
rs2111544	0.83[EUR][1000 genomes]
rs2231737	0.83[EUR][1000 genomes]
rs24135	0.98[ASN][1000 genomes]
rs24136	0.98[ASN][1000 genomes]
rs24137	0.98[ASN][1000 genomes]
rs2569640	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2569641	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2569642	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2569643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2569644	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2569645	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2569648	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2569649	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2569650	0.91[ASN][1000 genomes]
rs2569651	0.92[ASN][1000 genomes]
rs2767592	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2767593	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2767594	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2767595	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2767596	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2767597	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2767598	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2767601	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2767603	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2767604	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2767605	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2767606	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2767607	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2767608	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2767609	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2819955	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2819958	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28629274	0.92[ASN][1000 genomes]
rs28890790	0.93[ASN][1000 genomes]
rs2915972	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2970102	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2986595	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs337784	0.98[ASN][1000 genomes]
rs337785	0.98[ASN][1000 genomes]
rs337786	0.98[ASN][1000 genomes]
rs337787	0.98[ASN][1000 genomes]
rs337788	0.98[ASN][1000 genomes]
rs337789	0.98[ASN][1000 genomes]
rs337790	0.98[ASN][1000 genomes]
rs337791	0.96[ASN][1000 genomes]
rs337792	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs337793	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs337794	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3930885	0.83[EUR][1000 genomes]
rs57219798	0.83[EUR][1000 genomes]
rs57880771	0.83[ASN][1000 genomes]
rs57900299	0.82[ASN][1000 genomes]
rs58003479	0.92[ASN][1000 genomes]
rs58210425	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs58284735	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs58395013	0.80[ASN][1000 genomes]
rs58440570	0.80[ASN][1000 genomes]
rs58899236	0.98[ASN][1000 genomes]
rs58941665	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs59502139	0.80[ASN][1000 genomes]
rs60449727	0.82[ASN][1000 genomes]
rs61236589	0.83[EUR][1000 genomes]
rs61385499	0.83[EUR][1000 genomes]
rs7258506	0.80[ASN][1000 genomes]
rs7258627	0.80[ASN][1000 genomes]
rs7258974	0.83[ASN][1000 genomes]
rs7259855	0.83[ASN][1000 genomes]
rs7260378	0.83[ASN][1000 genomes]
rs73546001	0.83[EUR][1000 genomes]
rs73546002	0.83[EUR][1000 genomes]
rs73547618	0.83[EUR][1000 genomes]
rs73547620	0.83[EUR][1000 genomes]
rs73547638	0.83[EUR][1000 genomes]
rs73547652	0.83[EUR][1000 genomes]
rs73547656	0.83[EUR][1000 genomes]
rs73547663	0.83[EUR][1000 genomes]
rs73547696	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73547702	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73549804	0.94[AMR][1000 genomes]
rs73549810	0.80[ASN][1000 genomes]
rs73549811	0.80[ASN][1000 genomes]
rs73549820	0.80[ASN][1000 genomes]
rs73549825	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73549826	0.83[ASN][1000 genomes]
rs73549829	0.83[ASN][1000 genomes]
rs73549833	0.83[ASN][1000 genomes]
rs73549835	0.83[ASN][1000 genomes]
rs73549836	0.83[ASN][1000 genomes]
rs73549877	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73551642	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73551661	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73551662	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73551663	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73551668	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73551674	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73551675	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73551681	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73551683	0.98[ASN][1000 genomes]
rs73551685	0.99[ASN][1000 genomes]
rs73551687	0.99[ASN][1000 genomes]
rs73551688	0.99[ASN][1000 genomes]
rs73551689	0.99[ASN][1000 genomes]
rs73551691	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73551695	0.98[ASN][1000 genomes]
rs73553603	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8103294	0.93[ASN][1000 genomes]
rs8106032	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
4	esv2758499	chr19:40612420-40839520	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	esv2758761	chr19:40612420-40839520	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 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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