Variant report

Variant	rs337793
Chromosome Location	chr19:40601230-40601231
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	chr19:40595751..40597908-chr19:40599874..40602107,2	K562	blood:

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

Extended variants
information (count: 172 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:168)

rs_ID	r²[population]
rs1007628	0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs10401980	0.89[ASN][1000 genomes]
rs10406738	0.86[JPT][hapmap]
rs1327185	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];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	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1327189	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1327190	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1327191	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1327192	0.91[AFR][1000 genomes];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[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs163213	0.82[JPT][hapmap]
rs16973950	0.83[CHB][hapmap];0.84[JPT][hapmap]
rs16974093	0.90[ASN][1000 genomes]
rs170900	0.86[JPT][hapmap]
rs170901	0.86[JPT][hapmap]
rs173061	0.86[JPT][hapmap]
rs17796901	0.85[JPT][hapmap];0.86[YRI][hapmap]
rs17797100	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs183504	1.00[CEU][hapmap];0.85[JPT][hapmap];0.83[EUR][1000 genomes]
rs1854098	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1854099	0.85[YRI][hapmap]
rs186815	0.86[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	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2111543	1.00[CEU][hapmap];0.86[JPT][hapmap];0.83[EUR][1000 genomes]
rs2111544	1.00[CEU][hapmap];0.86[JPT][hapmap];0.81[YRI][hapmap];0.83[EUR][1000 genomes]
rs2231737	1.00[CEU][hapmap];0.86[JPT][hapmap];0.83[EUR][1000 genomes]
rs234301	1.00[CEU][hapmap];0.86[JPT][hapmap]
rs234302	0.86[JPT][hapmap]
rs234304	0.86[JPT][hapmap]
rs234309	0.85[JPT][hapmap]
rs234318	0.86[JPT][hapmap]
rs234323	1.00[CEU][hapmap];0.86[JPT][hapmap]
rs234324	1.00[CEU][hapmap];0.85[JPT][hapmap]
rs234325	1.00[CEU][hapmap];0.85[JPT][hapmap]
rs234340	0.88[JPT][hapmap]
rs234341	1.00[CEU][hapmap];0.85[JPT][hapmap]
rs234352	0.86[JPT][hapmap]
rs234353	0.85[JPT][hapmap]
rs234355	1.00[CEU][hapmap];0.85[JPT][hapmap]
rs234361	0.86[JPT][hapmap]
rs234370	0.85[JPT][hapmap]
rs234374	1.00[CEU][hapmap];0.86[JPT][hapmap]
rs24135	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs24136	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs24137	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2569639	0.91[AFR][1000 genomes];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[YRI][hapmap];0.91[AFR][1000 genomes];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[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2569642	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2569643	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2569644	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2569645	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2569648	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2569649	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2569650	0.93[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2569651	0.94[ASN][1000 genomes]
rs2767592	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2767593	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2767594	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2767595	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2767596	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2767597	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2767598	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2767601	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2767603	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2767604	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]
rs2767605	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2767606	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2767607	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][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]
rs2767608	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2767609	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2819955	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2819956	0.85[JPT][hapmap]
rs2819958	0.91[AFR][1000 genomes];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[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2970102	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2986595	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs337779	0.86[JPT][hapmap]
rs337780	0.88[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[JPT][hapmap];1.00[ASN][1000 genomes]
rs337790	1.00[ASN][1000 genomes]
rs337791	0.99[ASN][1000 genomes]
rs337792	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];0.81[YRI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs337799	0.85[JPT][hapmap]
rs371500	0.85[JPT][hapmap]
rs387202	0.86[JPT][hapmap]
rs3887029	1.00[CEU][hapmap]
rs392958	1.00[CEU][hapmap];0.85[JPT][hapmap]
rs3930885	0.83[EUR][1000 genomes]
rs421533	0.85[JPT][hapmap]
rs426950	0.85[JPT][hapmap]
rs4577216	0.85[JPT][hapmap];0.80[ASN][1000 genomes]
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	0.85[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	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73551642	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73551661	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73551662	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73551663	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73551668	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73551674	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73551675	0.91[AFR][1000 genomes];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	0.91[AFR][1000 genomes];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	0.85[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs337793	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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