Variant report

Variant	rs2767604
Chromosome Location	chr19:40609975-40609976
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
ENSG00000269296	Chromatin interaction
ENSG00000197782	Chromatin interaction
ENSG00000269749	Chromatin interaction

Extended variants
information (count: 171 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:167)

rs_ID	r²[population]
rs1007628	0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs10401980	0.89[ASN][1000 genomes]
rs10406738	0.85[JPT][hapmap]
rs1327185	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1327187	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1327188	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1327189	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1327190	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1327191	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1327192	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1327193	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16973950	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs16974093	0.90[ASN][1000 genomes]
rs170900	0.86[JPT][hapmap]
rs170901	0.85[JPT][hapmap]
rs173061	0.85[JPT][hapmap]
rs17796901	0.87[CHD][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap]
rs17797100	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs183504	1.00[CEU][hapmap];0.87[CHD][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes]
rs1854098	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs186815	0.85[JPT][hapmap]
rs1926931	0.85[ASN][1000 genomes]
rs1926932	0.85[ASN][1000 genomes]
rs1926933	0.85[ASN][1000 genomes]
rs1926934	0.85[ASN][1000 genomes]
rs1998931	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2111543	1.00[CEU][hapmap];0.85[JPT][hapmap];0.83[EUR][1000 genomes]
rs2111544	1.00[CEU][hapmap];0.85[JPT][hapmap];0.83[EUR][1000 genomes]
rs2231737	1.00[CEU][hapmap];0.85[JPT][hapmap];0.83[EUR][1000 genomes]
rs234301	1.00[CEU][hapmap];0.85[JPT][hapmap]
rs234302	0.85[JPT][hapmap]
rs234304	0.85[JPT][hapmap]
rs234309	0.87[CHD][hapmap];0.85[JPT][hapmap];0.90[TSI][hapmap]
rs234318	0.85[JPT][hapmap]
rs234323	1.00[CEU][hapmap];0.85[JPT][hapmap]
rs234324	1.00[CEU][hapmap];0.87[CHD][hapmap];0.85[JPT][hapmap];0.88[TSI][hapmap]
rs234325	1.00[CEU][hapmap];0.87[CHD][hapmap];0.85[JPT][hapmap];0.88[TSI][hapmap]
rs234340	0.86[JPT][hapmap]
rs234341	1.00[CEU][hapmap];0.86[CHD][hapmap];0.85[JPT][hapmap];0.88[TSI][hapmap]
rs234352	0.85[JPT][hapmap]
rs234353	0.87[CHD][hapmap];0.85[JPT][hapmap];0.90[TSI][hapmap]
rs234355	1.00[CEU][hapmap];0.87[CHD][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap]
rs234361	0.85[JPT][hapmap]
rs234370	0.80[CHD][hapmap];0.85[JPT][hapmap]
rs234374	1.00[CEU][hapmap];0.85[JPT][hapmap]
rs24135	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs24136	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];1.00[ASN][1000 genomes]
rs24137	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2569639	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2569640	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2569641	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2569642	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2569643	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2569644	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2569645	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2569648	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2569649	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2569650	0.93[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2569651	0.94[ASN][1000 genomes]
rs2767592	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2767593	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2767594	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2767595	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2767596	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2767597	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2767598	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2767601	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2767603	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2767605	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2767606	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2767607	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2767608	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2767609	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2819955	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2819956	0.87[CHD][hapmap];0.85[JPT][hapmap]
rs2819958	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28629274	0.90[ASN][1000 genomes]
rs28890790	0.91[ASN][1000 genomes]
rs2915972	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2970102	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2986595	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs337779	0.85[JPT][hapmap]
rs337780	0.86[JPT][hapmap]
rs337784	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs337785	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs337786	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs337787	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs337788	1.00[ASN][1000 genomes]
rs337789	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];1.00[ASN][1000 genomes]
rs337790	1.00[ASN][1000 genomes]
rs337791	0.99[ASN][1000 genomes]
rs337792	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs337793	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs337794	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs337799	0.80[CHD][hapmap];0.85[JPT][hapmap]
rs371500	0.85[JPT][hapmap]
rs387202	0.85[JPT][hapmap]
rs3887029	1.00[CEU][hapmap]
rs392958	1.00[CEU][hapmap];0.85[JPT][hapmap]
rs3930885	0.83[EUR][1000 genomes]
rs421533	0.80[CHD][hapmap];0.85[JPT][hapmap]
rs426950	0.80[CHD][hapmap];0.85[JPT][hapmap]
rs4577216	0.87[CHD][hapmap];0.85[JPT][hapmap];0.81[TSI][hapmap];0.80[ASN][1000 genomes]
rs459091	0.80[CHD][hapmap]
rs57219798	0.83[EUR][1000 genomes]
rs57880771	0.85[ASN][1000 genomes]
rs57900299	0.84[ASN][1000 genomes]
rs58003479	0.90[ASN][1000 genomes]
rs58210425	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs58284735	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs58395013	0.83[ASN][1000 genomes]
rs58440570	0.83[ASN][1000 genomes]
rs58899236	1.00[ASN][1000 genomes]
rs58941665	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs59502139	0.83[ASN][1000 genomes]
rs60449727	0.84[ASN][1000 genomes]
rs61236589	0.83[EUR][1000 genomes]
rs61385499	0.83[EUR][1000 genomes]
rs7247527	0.82[JPT][hapmap]
rs7257747	0.82[ASN][1000 genomes]
rs7258202	0.82[ASN][1000 genomes]
rs7258506	0.83[ASN][1000 genomes]
rs7258627	0.83[ASN][1000 genomes]
rs7258778	0.82[ASN][1000 genomes]
rs7258974	0.85[ASN][1000 genomes]
rs7259855	0.85[ASN][1000 genomes]
rs7260378	0.85[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];0.80[ASN][1000 genomes]
rs73547702	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73549804	0.94[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs73549810	0.83[ASN][1000 genomes]
rs73549811	0.83[ASN][1000 genomes]
rs73549820	0.83[ASN][1000 genomes]
rs73549825	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73549826	0.85[ASN][1000 genomes]
rs73549829	0.85[ASN][1000 genomes]
rs73549833	0.85[ASN][1000 genomes]
rs73549835	0.85[ASN][1000 genomes]
rs73549836	0.85[ASN][1000 genomes]
rs73549877	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73551642	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73551661	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73551662	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73551663	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73551668	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73551674	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73551675	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73551681	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73551683	0.95[ASN][1000 genomes]
rs73551685	0.96[ASN][1000 genomes]
rs73551687	0.96[ASN][1000 genomes]
rs73551688	0.96[ASN][1000 genomes]
rs73551689	0.96[ASN][1000 genomes]
rs73551691	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73551695	0.95[ASN][1000 genomes]
rs73553603	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8103294	0.91[ASN][1000 genomes]
rs8105066	0.80[CHD][hapmap];0.85[JPT][hapmap]
rs8106032	1.00[JPT][hapmap];0.83[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
rs2767604	ZNF780A	cis	lymphoblastoid	seeQTL
rs2767604	FCGBP	cis	lymphoblastoid	seeQTL
rs2767604	FCGBP	cis	multi-tissue	Pritchard

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

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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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