Variant report

Variant	rs73547696
Chromosome Location	chr19:40570801-40570802
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:40570661..40573869-chr19:40576488..40578781,3	K562	blood:
2	chr19:40570738..40572321-chr19:40596711..40598532,2	K562	blood:
3	chr19:40500531..40503274-chr19:40569406..40572100,2	K562	blood:
4	chr19:40560764..40563525-chr19:40569476..40573734,4	K562	blood:
5	chr19:40560102..40567049-chr19:40567713..40574804,12	K562	blood:
6	chr19:40569017..40571965-chr19:40572849..40575602,2	K562	blood:

Variant related genes	Relation type
ENSG00000128000	Chromatin interaction
ENSG00000269749	Chromatin interaction
ENSG00000197782	Chromatin interaction
ENSG00000187187	Chromatin interaction

Extended variants
information (count: 210 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:208)

rs_ID	r²[population]
rs1007628	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10406738	0.88[ASN][1000 genomes]
rs10417013	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10417043	0.92[ASN][1000 genomes]
rs10418196	0.91[ASN][1000 genomes]
rs11542840	0.93[AFR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1327185	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1327187	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1327188	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1327189	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1327190	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1327191	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1327192	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1327193	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13344062	0.89[ASN][1000 genomes]
rs163213	0.94[ASN][1000 genomes]
rs16973950	0.88[ASN][1000 genomes]
rs170901	0.95[ASN][1000 genomes]
rs173061	0.92[ASN][1000 genomes]
rs17796769	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17796901	0.95[ASN][1000 genomes]
rs17797100	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs183504	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1854098	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs186801	0.92[ASN][1000 genomes]
rs186815	0.89[ASN][1000 genomes]
rs1926931	0.95[ASN][1000 genomes]
rs1926932	0.95[ASN][1000 genomes]
rs1926933	0.95[ASN][1000 genomes]
rs1926934	0.95[ASN][1000 genomes]
rs1998931	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2111543	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2111544	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2231737	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs234301	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs234302	0.95[ASN][1000 genomes]
rs234303	0.89[ASN][1000 genomes]
rs234304	0.88[ASN][1000 genomes]
rs234306	0.88[ASN][1000 genomes]
rs234308	0.89[ASN][1000 genomes]
rs234309	0.92[ASN][1000 genomes]
rs234310	0.88[ASN][1000 genomes]
rs234313	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs234314	0.89[EUR][1000 genomes]
rs234315	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs234317	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs234318	0.88[ASN][1000 genomes]
rs234323	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs234324	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs234325	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs234326	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs234328	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs234341	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs234343	0.86[ASN][1000 genomes]
rs234352	0.89[ASN][1000 genomes]
rs234353	0.95[ASN][1000 genomes]
rs234355	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs234356	0.89[ASN][1000 genomes]
rs234357	0.95[ASN][1000 genomes]
rs234360	0.88[ASN][1000 genomes]
rs234361	0.88[ASN][1000 genomes]
rs234370	0.88[ASN][1000 genomes]
rs234371	0.88[ASN][1000 genomes]
rs234374	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs24135	0.80[ASN][1000 genomes]
rs24136	0.80[ASN][1000 genomes]
rs24137	0.80[ASN][1000 genomes]
rs2542303	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2569639	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2569640	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2569641	0.89[AMR][1000 genomes]
rs2569642	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2569643	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2569644	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2569645	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2569648	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2569649	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2767592	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2767593	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2767594	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2767595	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2767596	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2767597	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2767598	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2767601	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2767603	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2767604	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2767605	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2767606	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2767607	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2767608	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2767609	0.89[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2819955	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2819956	0.92[ASN][1000 genomes]
rs2819958	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28366011	0.93[AFR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2915972	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2970102	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2986595	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3000956	0.94[ASN][1000 genomes]
rs337779	0.94[ASN][1000 genomes]
rs337784	0.80[ASN][1000 genomes]
rs337785	0.80[ASN][1000 genomes]
rs337786	0.80[ASN][1000 genomes]
rs337787	0.80[ASN][1000 genomes]
rs337788	0.80[ASN][1000 genomes]
rs337789	0.80[ASN][1000 genomes]
rs337790	0.80[ASN][1000 genomes]
rs337792	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs337793	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs337794	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs337798	0.91[ASN][1000 genomes]
rs337799	0.91[ASN][1000 genomes]
rs337800	0.90[ASN][1000 genomes]
rs337801	0.87[ASN][1000 genomes]
rs365055	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs371500	0.88[ASN][1000 genomes]
rs372599	0.91[ASN][1000 genomes]
rs387202	0.92[ASN][1000 genomes]
rs3887029	0.84[ASN][1000 genomes]
rs392958	0.95[ASN][1000 genomes]
rs3930885	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs404754	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs416283	0.94[ASN][1000 genomes]
rs420579	0.94[ASN][1000 genomes]
rs421533	0.94[ASN][1000 genomes]
rs423545	0.90[ASN][1000 genomes]
rs424353	0.88[ASN][1000 genomes]
rs426950	0.94[ASN][1000 genomes]
rs4577216	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs459091	0.94[ASN][1000 genomes]
rs57219798	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57880771	0.95[ASN][1000 genomes]
rs57900299	0.96[ASN][1000 genomes]
rs58210425	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58284735	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58395013	0.97[ASN][1000 genomes]
rs58440570	0.95[ASN][1000 genomes]
rs58844095	0.91[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs58899236	0.80[ASN][1000 genomes]
rs58941665	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59502139	0.97[ASN][1000 genomes]
rs59925663	0.91[ASN][1000 genomes]
rs60080503	0.86[ASN][1000 genomes]
rs60449727	0.96[ASN][1000 genomes]
rs60887294	0.92[ASN][1000 genomes]
rs61236589	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61385499	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs615215	0.88[ASN][1000 genomes]
rs7247527	0.88[ASN][1000 genomes]
rs7257747	0.96[ASN][1000 genomes]
rs7258202	0.96[ASN][1000 genomes]
rs7258506	0.97[ASN][1000 genomes]
rs7258627	0.97[ASN][1000 genomes]
rs7258778	0.96[ASN][1000 genomes]
rs7258974	0.95[ASN][1000 genomes]
rs7259855	0.95[ASN][1000 genomes]
rs7260378	0.95[ASN][1000 genomes]
rs73543974	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73543979	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73544000	0.91[AFR][1000 genomes]
rs73545909	0.91[AFR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73545911	0.92[ASN][1000 genomes]
rs73545934	0.92[ASN][1000 genomes]
rs73545936	0.93[AFR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73545938	0.93[AFR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73545945	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73545950	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73545955	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73545975	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73546001	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73546002	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73547618	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73547620	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73547638	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73547652	0.94[AFR][1000 genomes];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73547656	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73547663	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73547676	0.95[ASN][1000 genomes]
rs73547677	0.95[ASN][1000 genomes]
rs73547702	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73549804	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs73549810	0.97[ASN][1000 genomes]
rs73549811	0.97[ASN][1000 genomes]
rs73549820	0.97[ASN][1000 genomes]
rs73549821	0.91[ASN][1000 genomes]
rs73549825	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73549826	0.95[ASN][1000 genomes]
rs73549829	0.95[ASN][1000 genomes]
rs73549833	0.95[ASN][1000 genomes]
rs73549835	0.95[ASN][1000 genomes]
rs73549836	0.95[ASN][1000 genomes]
rs73549877	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73551642	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73551661	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73551662	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73551663	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73551668	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73551674	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73551675	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73551681	0.89[EUR][1000 genomes]
rs73551691	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73553603	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8105066	0.88[ASN][1000 genomes]
rs8106032	0.97[ASN][1000 genomes]
rs8108793	0.94[ASN][1000 genomes]
rs9783938	0.91[ASN][1000 genomes]
rs9917073	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40562600-40579200	Weak transcription	Left Ventricle	heart
2	chr19:40562600-40579400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr19:40566000-40580000	Weak transcription	Fetal Heart	heart
4	chr19:40570600-40579800	Weak transcription	Brain Cingulate Gyrus	brain

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